Estradiol treatment during early life stages of tiger puffer Takifugu rubripes induces feminization in genetic males.However,the ovaries in genetic males may revert to testes once estradiol treatment is halted.Therefo...Estradiol treatment during early life stages of tiger puffer Takifugu rubripes induces feminization in genetic males.However,the ovaries in genetic males may revert to testes once estradiol treatment is halted.Therefore studies should investigate molecular mechanisms underlying ovary-to-testis recovery in genetic males after treatment.In the present study,tiger puffer were exposed to 10,and 100μg/L 17β-estradiol(E 2)from 15 to 100 days post-hatching(dph),then gonad phenotypes and expression profi les of six sex-related genes(cyp19a,foxl2,dmrt1,amh,sox9a,and sox9b)were characterized after the exposure.Results showed that both 10 and 100μg/L E2 induced ovarian development in genetic males at 100 dph.However,all ovaries induced by 10μg/L E2 first developed into intersexual gonads and subsequently reverted to testes after the exposure.As for treatment of 100μg/L E2,while the rest of the ovaries maintained morphological stability,percentages of intersexual gonads reached 38%-57%,and none were reverted to testes.Increased mRNA levels of cyp19a,foxl2 and sox9b and decreased mRNA levels of dmrt1,amh,and sox9a were observed during the ovarian development in genetic males.While contrary gene expression profiles were detected during ovary-to-testis transformation.The mRNA levels of all the six genes were increased during the development of intersexual gonads.These results indicated that up-regulation of dmrt1,amh and sox9a is associated with initial ovary-to-intersexual transformation,and suppression of foxl2,cyp19a and sox9b is essential for complete ovary-to-testis recovery in genetic males.This research will help to trace the molecular processes underlying gonadal transformation in teleosts.展开更多
Sex emerges out of a delicate dance between a variety of promale, anti-male, and possibly profemale genes. To investigate the role that sex-related genes play in sex determination and gonadal differentiation of fowl, ...Sex emerges out of a delicate dance between a variety of promale, anti-male, and possibly profemale genes. To investigate the role that sex-related genes play in sex determination and gonadal differentiation of fowl, we constructed a male-to- female sex-reversal model of chick induced by diethylstilbestrol (DES) at onset of incubation (E0). The results of semi- quantitative PCR showed that the expression of Sf1, the orphan nuclear receptor steroidogenic factor-1 gene, was put forward from E7d to E5d and up-regulated during E5-7d; the Dmrt1, the double sex and the Mab-3 related to transcription factor 1 gene, was down-regulated during E3-7d. Meanwhile, anti-Müllerian hormone gene (Amh) expressed at a similar level in the genetic females and sex-reversal females before E7d, while no expression products of the three female-specific genes Wpkci, Fet1 and Foxl2 were detected in male-to-female embryos. These findings suggest that the expression of some certain sex-related genes, induced by the exogenous estrogen during period of sex determination and gonadal differentiation, results in the male-to-female sex reversal. Moreover, high activity of Sf1 gene during E5-7d might be related to the profemale process, while low activity of Dmrt1 gene during E3-5d might be anti-male. The expression activity of Amh gene might only contribute to the promale process after E7d, however, it is possibly not an anti-female gene in chick embryos.展开更多
In order to investigate the relationship between sex dysplasia and sex-determining region Y (SRY) gene, 8 patients with sexual abnormality were analyzed by cytogenetic and molecular genetic methods. Fluorescence in s...In order to investigate the relationship between sex dysplasia and sex-determining region Y (SRY) gene, 8 patients with sexual abnormality were analyzed by cytogenetic and molecular genetic methods. Fluorescence in situ hybridization (FISH) using PY3.4, X alpha satellite, and SRY probes was performed in each case to analyze the sex chromosome translocation and gene translocation. SRY gene was amplified by polymerase chain reaction (PCR) and its mutation was detected by direct sequencing. The results showed that among 8 patients, 5 were positive for SRY and the remaining negative for SRY. In the patients positive for SRY genes, 3 presented testes and the left 2 streak ovaries. In the patients negative for SRY, only one case presented testes, while 2 ovaries. Direct sequencing demonstrated that all SRY genes were normal in the patients positive for SRY genes. FISH technique demonstrated that SRY genes translocated from Ypter to Xpter in 2 46,XX phenotypic males positive for SRY genes. It was concluded that SRY gene is strongly involved in male sex determination, while a sequence of other genes may be taken into account in sexual development.展开更多
Genetic models are proposed for analyzing sex-linked and maternal effects as well as autosomal gene effects.For the model with no genotype×environment interaction,the total genetic effect is partitioned into dire...Genetic models are proposed for analyzing sex-linked and maternal effects as well as autosomal gene effects.For the model with no genotype×environment interaction,the total genetic effect is partitioned into direct additive (A),direct dominance (D),sexlinked (L),maternal additive (Am) and maternal dominance (Dm) genetic components.For the model including genotype×environment interaction (GE),GE can also be partitioned into components of direct additive by environment interaction (AE),direct dominance by environment interaction (DE),sex-linked by environment interaction (LE),maternal additive by environment interaction (AmE ),and maternal dominance by environment interaction (DmE).Linear functions of genetic components are listed for parent,F1,and F2.A set of parents,their reciprocal F1’s and F2’s is applicable for efficient analysis.Variance and covariance components can be well mated by MINQUE(O/l) with the jackknife procedure.The t-test conducted by the jackknife procedure is applicable for detecting significance of variation.Adjusted Unbiased Prediction (AUP) method is suggested for predicting genetic effects.展开更多
Temperature-dependent sex determination(TSD) is a type of environmental sex determination in which the sex of the embryos depends on the ambient temperature; however,the molecular mechanisms governing this process r...Temperature-dependent sex determination(TSD) is a type of environmental sex determination in which the sex of the embryos depends on the ambient temperature; however,the molecular mechanisms governing this process remain unknown.Aromatase,encoded by the cyp19a1 gene,which converts androgens into estrogens in animals,was considered to be the key gene for TSD.In this study,the 5'-flanking region of the cyp19a1 gene in Reeves' turtle(Mauremys reevesii) was cloned,and the promoter region was identified using the luciferase reporter assay.Then the eggs of Reeves' turtle were incubated at different temperatures(26°C: male-biased temperature; 29°C: non-sex-biased temperature and 32°C: female-biased temperature).During the thermosensitive period,the adrenal kidney gonad complexes(AKG) were sampled.DNA methylation analysis of the AKG samples showed that the promoter region of the cyp19a1 gene was significantly de-methylated in the female-biased temperature regime(P<0.01).Quantitative analysis of the cyp19a1 gene and estrogen by q PCR and Elisa assay showed that the expression level of the cyp19a1 gene and estrogen content were both upregulated significantly at the female-biased temperature(P<0.01).These results indicated that the de-methylation response of the cyp19a1 gene to incubation temperature,especially at the female-biased temperature,could lead to temperature-specific expression of aromatase and increased estrogen levels,which may further determine gonadal development in Reeves' turtle.These findings provide insights into the genetic mechanisms underlying TSD.展开更多
Sex-determining region Y box-containing genes are transcription factors with roles in multiple biological processes, including cell differentiation, proliferation, and apoptosis.Sex-determining region Y box-containing...Sex-determining region Y box-containing genes are transcription factors with roles in multiple biological processes, including cell differentiation, proliferation, and apoptosis.Sex-determining region Y box-containing genes have also been shown to act as regulators and biomarkers in the progression of many different cancers, including gynecological cancers such as ovarian, cervical,and endometrial cancer.In this review, we summarize the contrasting regulatory roles of Sex-determining region Y box-containing genes in different gynecological cancers, as promotors with high expression levels or as suppressors with low expression levels.Expression levels of Sex-determining region Y box-containing genes were also identified as biomarkers of clinical features, including International Federation of Gynecology and Obstetrics stage, histopathologic grade together with disease-free survival, and treatment efficacy in patients with gynecological cancers.An understanding of the mechanisms whereby Sex-determining region Y box-containing genes regulate the progression of gynecological cancers will aid in the development of novel diagnostic and therapeutic strategies, while analysis of Sex-determining region Y box-containing expression levels will help to predict the prognosis of patients with gynecological cancers.展开更多
Russian sturgeon (<i></span><i><span style="font-family:Verdana;">Acipenser gueldenstaedtii</span></i><span style="font-family:Verdana;"></i></spa...Russian sturgeon (<i></span><i><span style="font-family:Verdana;">Acipenser gueldenstaedtii</span></i><span style="font-family:Verdana;"></i></span><span style="font-family:Verdana;">) is a primitive freshwater fish and a source of black caviar.</span></span><span style="font-family:""> </span><span style="font-family:""><span style="font-family:Verdana;">The genes involved in sexual determination and differentiation are still unknown and there are no molecular markers for sex identification in this species. Studying the variation of the sex-based differences in genomic sequences and in gene expression in the sturgeon may lead to markers of sex in early stages of development and advances in aquaculture, as well as provide novel insights about the evolution of reproduction, sex determination, and sexual differentiation mechanisms in vertebrates. Previous studies by our and other groups have identified differentially expressed genes in the gonads of adult female and male sturgeon. The current study aimed to test whether these ge</span><span style="font-family:Verdana;">nes were also differentially expressed in non-gonadal tissue, namely fins. We measured by qRT-PCR the mRNA levels of 29 known and novel sex-related genes in the gonads and fins of males (4 years old) and females (7 years old;sexual maturation is earlier in males than in females). Six genes (ATP6, IGFRM, LIA1A, S1A, NPL1A, GAPDH and SOX9) showed higher expression in female fin</span><span style="font-family:Verdana;">s. However, only ATP6 mRNA levels differed in fins of males and females of the same age (4 years old). These findings underscore the impracticality of sex identification based on gene expression in non-gonadal</span><span style="font-family:Verdana;"> tissue and the need for genetic sex markers in the Russian sturgeon.展开更多
As a specific gene of fish,cytochrome P450c17-Ⅱ(CYP17-Ⅱ) gene plays a key role in the growth,development and reproduction level of fish.In this study,the single-stranded conformational polymorphism(SSCP) technique w...As a specific gene of fish,cytochrome P450c17-Ⅱ(CYP17-Ⅱ) gene plays a key role in the growth,development and reproduction level of fish.In this study,the single-stranded conformational polymorphism(SSCP) technique was used to characterize polymorphisms within the coding region of CYP17-Ⅱ gene in a population of 75 male Japanese flounder(Paralichthys olivaceus).Three single nucleotide polymorphisms(SNPs) were identified in CYP17-Ⅱ gene of Japanese flounder.They were c.G594A(p.G188R),c.G939A and c.G1502A(p.G490D).SNP1(c.G594A),located in exon 4 of CYP17-Ⅱ gene,was significantly associated with gonadosomatic index(GSI).Individuals with genotype GG of SNP1 had significantly lower GSI(P < 0.05) than those with geno-type AA or AG.SNP2(c.G939A) located at the CpG island of CYP17-Ⅱ gene.The mutation changed the methylation of exon 6.Indi-viduals with genotype AA of SNP2 had significantly lower serum testosterone(T) level and hepatosomatic index(HSI) compared to those with genotype GG.The results suggested that SNP2 could influence the reproductive endocrine of male Japanese flounder.How-ever,the SNP3(c.G1502A) located in exon 9 did not affect the four measured reproductive traits.This study showed that CYP17-Ⅱ gene could be a potentially useful candidate gene for the research of genetic breeding and physiological aspects of Japanese flounder.展开更多
Mouse TGF-β1 gene was microinjected into male pronuclei of F2 hybrid fertilized eggs obtained by mating CSJLF1 and C57BL/6J inbred strains to generate transgenic mice with over-expressed TGF-β1 gene. The rate of fou...Mouse TGF-β1 gene was microinjected into male pronuclei of F2 hybrid fertilized eggs obtained by mating CSJLF1 and C57BL/6J inbred strains to generate transgenic mice with over-expressed TGF-β1 gene. The rate of founder production is 31% and Southern blot analysis of founder mice tail DNAS gave an integration efficiency of 33%. TGF-β1 gene could be stably integrated to the chromosomes of transgenic mice and transmitted to their progeny at a rate of 33% in the second generation. Dot blot analysis of tail RNA of some transgenic mice indicated a moderate expression of the transgene. The most interesting finding of the present work is the striking deviation from the normal male:female sex ratio in transgenic mice,with an average ratio of 6.7:1. The possible nature of the predominance of male sex in transgenic mice overexpressing TGF-β1 is discussed.展开更多
目的:分析46,XX睾丸型性腺发育异常患者的遗传和临床资料,为加深对该疾病的认识提供依据。方法:收集2017年1月至2023年1月在南京医科大学第一附属医院生殖中心被诊断为46,XX睾丸型性腺发育异常的患者资料,分析其遗传学和临床资料特征,并...目的:分析46,XX睾丸型性腺发育异常患者的遗传和临床资料,为加深对该疾病的认识提供依据。方法:收集2017年1月至2023年1月在南京医科大学第一附属医院生殖中心被诊断为46,XX睾丸型性腺发育异常的患者资料,分析其遗传学和临床资料特征,并对SRY阳性患者取外周血进行SRY基因染色体定位分析。结果:(1)共26例患者被纳入研究,所有患者染色体核型均为46,XX,且AZFa、b、c区全部缺失。患者身高为(168.3±5.9)cm,体重为(64.0±7.5)kg,BMI为(22.66±2.79)kg/m^(2),左侧睾丸体积(2.53±1.16)ml,右侧睾丸体积:(2.74±1.34)ml。精液量为1.35(0.18~2.78)ml,FSH(36.85±18.01)IU/L,LH(19.71±9.71)IU/L,T(6.08±2.71)nmol/L。3例患者最高学历是大学本科,其余均为本科以下学历。(2)SRY阳性患者20例,SRY阴性患者6例。与SRY阳性患者相比,SRY阴性患者合并有生殖系统发育异常问题概率较高(5/6 vs 3/20,P=0.004),而两组在身高、体重、BMI、生殖激素,睾丸体积等参数差异均无统计学意义。(3)14例SRY基因定位分析显示:13例定位于Xp末端,1例定位于15p末端。结论:46,XX睾丸型性腺发育异常患者在遗传学和临床特征上呈现出一定相似性和异质性,需要寻求更好的方案提高患者的生活质量和生活满意度。展开更多
基金Supported by the Innovation ofAgricultural Organization and Development of lndustry Amalgamation Project(No.125162002000160001)the Qingdao Postdoctoral Application Research Project(No.ZHHSZ201819039)the Shandong Province Post-doctoral Innovation Projects of Special Funds(No.ZHHSZ201819032)
文摘Estradiol treatment during early life stages of tiger puffer Takifugu rubripes induces feminization in genetic males.However,the ovaries in genetic males may revert to testes once estradiol treatment is halted.Therefore studies should investigate molecular mechanisms underlying ovary-to-testis recovery in genetic males after treatment.In the present study,tiger puffer were exposed to 10,and 100μg/L 17β-estradiol(E 2)from 15 to 100 days post-hatching(dph),then gonad phenotypes and expression profi les of six sex-related genes(cyp19a,foxl2,dmrt1,amh,sox9a,and sox9b)were characterized after the exposure.Results showed that both 10 and 100μg/L E2 induced ovarian development in genetic males at 100 dph.However,all ovaries induced by 10μg/L E2 first developed into intersexual gonads and subsequently reverted to testes after the exposure.As for treatment of 100μg/L E2,while the rest of the ovaries maintained morphological stability,percentages of intersexual gonads reached 38%-57%,and none were reverted to testes.Increased mRNA levels of cyp19a,foxl2 and sox9b and decreased mRNA levels of dmrt1,amh,and sox9a were observed during the ovarian development in genetic males.While contrary gene expression profiles were detected during ovary-to-testis transformation.The mRNA levels of all the six genes were increased during the development of intersexual gonads.These results indicated that up-regulation of dmrt1,amh and sox9a is associated with initial ovary-to-intersexual transformation,and suppression of foxl2,cyp19a and sox9b is essential for complete ovary-to-testis recovery in genetic males.This research will help to trace the molecular processes underlying gonadal transformation in teleosts.
基金supported by the National Key Technology R&D Program of China (2007BAD72B01)the National High Technology R&D Program of China (2011AA100306)
文摘Sex emerges out of a delicate dance between a variety of promale, anti-male, and possibly profemale genes. To investigate the role that sex-related genes play in sex determination and gonadal differentiation of fowl, we constructed a male-to- female sex-reversal model of chick induced by diethylstilbestrol (DES) at onset of incubation (E0). The results of semi- quantitative PCR showed that the expression of Sf1, the orphan nuclear receptor steroidogenic factor-1 gene, was put forward from E7d to E5d and up-regulated during E5-7d; the Dmrt1, the double sex and the Mab-3 related to transcription factor 1 gene, was down-regulated during E3-7d. Meanwhile, anti-Müllerian hormone gene (Amh) expressed at a similar level in the genetic females and sex-reversal females before E7d, while no expression products of the three female-specific genes Wpkci, Fet1 and Foxl2 were detected in male-to-female embryos. These findings suggest that the expression of some certain sex-related genes, induced by the exogenous estrogen during period of sex determination and gonadal differentiation, results in the male-to-female sex reversal. Moreover, high activity of Sf1 gene during E5-7d might be related to the profemale process, while low activity of Dmrt1 gene during E3-5d might be anti-male. The expression activity of Amh gene might only contribute to the promale process after E7d, however, it is possibly not an anti-female gene in chick embryos.
文摘In order to investigate the relationship between sex dysplasia and sex-determining region Y (SRY) gene, 8 patients with sexual abnormality were analyzed by cytogenetic and molecular genetic methods. Fluorescence in situ hybridization (FISH) using PY3.4, X alpha satellite, and SRY probes was performed in each case to analyze the sex chromosome translocation and gene translocation. SRY gene was amplified by polymerase chain reaction (PCR) and its mutation was detected by direct sequencing. The results showed that among 8 patients, 5 were positive for SRY and the remaining negative for SRY. In the patients positive for SRY genes, 3 presented testes and the left 2 streak ovaries. In the patients negative for SRY, only one case presented testes, while 2 ovaries. Direct sequencing demonstrated that all SRY genes were normal in the patients positive for SRY genes. FISH technique demonstrated that SRY genes translocated from Ypter to Xpter in 2 46,XX phenotypic males positive for SRY genes. It was concluded that SRY gene is strongly involved in male sex determination, while a sequence of other genes may be taken into account in sexual development.
文摘Genetic models are proposed for analyzing sex-linked and maternal effects as well as autosomal gene effects.For the model with no genotype×environment interaction,the total genetic effect is partitioned into direct additive (A),direct dominance (D),sexlinked (L),maternal additive (Am) and maternal dominance (Dm) genetic components.For the model including genotype×environment interaction (GE),GE can also be partitioned into components of direct additive by environment interaction (AE),direct dominance by environment interaction (DE),sex-linked by environment interaction (LE),maternal additive by environment interaction (AmE ),and maternal dominance by environment interaction (DmE).Linear functions of genetic components are listed for parent,F1,and F2.A set of parents,their reciprocal F1’s and F2’s is applicable for efficient analysis.Variance and covariance components can be well mated by MINQUE(O/l) with the jackknife procedure.The t-test conducted by the jackknife procedure is applicable for detecting significance of variation.Adjusted Unbiased Prediction (AUP) method is suggested for predicting genetic effects.
基金supported financially by the National Natural Science Foundation of China(Nos.31401053 and 31471966)Guangdong Provincial Natural Science Foundation of China(No.2015A030313903)+1 种基金GDAS Special Project of Science and Technology Development(2017GDASCX-0107)the Funds for Environment Construction and Capacity Building of GDAS’Research Platform(2016GDASPT-0107)
文摘Temperature-dependent sex determination(TSD) is a type of environmental sex determination in which the sex of the embryos depends on the ambient temperature; however,the molecular mechanisms governing this process remain unknown.Aromatase,encoded by the cyp19a1 gene,which converts androgens into estrogens in animals,was considered to be the key gene for TSD.In this study,the 5'-flanking region of the cyp19a1 gene in Reeves' turtle(Mauremys reevesii) was cloned,and the promoter region was identified using the luciferase reporter assay.Then the eggs of Reeves' turtle were incubated at different temperatures(26°C: male-biased temperature; 29°C: non-sex-biased temperature and 32°C: female-biased temperature).During the thermosensitive period,the adrenal kidney gonad complexes(AKG) were sampled.DNA methylation analysis of the AKG samples showed that the promoter region of the cyp19a1 gene was significantly de-methylated in the female-biased temperature regime(P&lt;0.01).Quantitative analysis of the cyp19a1 gene and estrogen by q PCR and Elisa assay showed that the expression level of the cyp19a1 gene and estrogen content were both upregulated significantly at the female-biased temperature(P&lt;0.01).These results indicated that the de-methylation response of the cyp19a1 gene to incubation temperature,especially at the female-biased temperature,could lead to temperature-specific expression of aromatase and increased estrogen levels,which may further determine gonadal development in Reeves' turtle.These findings provide insights into the genetic mechanisms underlying TSD.
基金supported by grants from the National Natural Science Foundation of China (Grant No.81572568 and 81272863)
文摘Sex-determining region Y box-containing genes are transcription factors with roles in multiple biological processes, including cell differentiation, proliferation, and apoptosis.Sex-determining region Y box-containing genes have also been shown to act as regulators and biomarkers in the progression of many different cancers, including gynecological cancers such as ovarian, cervical,and endometrial cancer.In this review, we summarize the contrasting regulatory roles of Sex-determining region Y box-containing genes in different gynecological cancers, as promotors with high expression levels or as suppressors with low expression levels.Expression levels of Sex-determining region Y box-containing genes were also identified as biomarkers of clinical features, including International Federation of Gynecology and Obstetrics stage, histopathologic grade together with disease-free survival, and treatment efficacy in patients with gynecological cancers.An understanding of the mechanisms whereby Sex-determining region Y box-containing genes regulate the progression of gynecological cancers will aid in the development of novel diagnostic and therapeutic strategies, while analysis of Sex-determining region Y box-containing expression levels will help to predict the prognosis of patients with gynecological cancers.
文摘Russian sturgeon (<i></span><i><span style="font-family:Verdana;">Acipenser gueldenstaedtii</span></i><span style="font-family:Verdana;"></i></span><span style="font-family:Verdana;">) is a primitive freshwater fish and a source of black caviar.</span></span><span style="font-family:""> </span><span style="font-family:""><span style="font-family:Verdana;">The genes involved in sexual determination and differentiation are still unknown and there are no molecular markers for sex identification in this species. Studying the variation of the sex-based differences in genomic sequences and in gene expression in the sturgeon may lead to markers of sex in early stages of development and advances in aquaculture, as well as provide novel insights about the evolution of reproduction, sex determination, and sexual differentiation mechanisms in vertebrates. Previous studies by our and other groups have identified differentially expressed genes in the gonads of adult female and male sturgeon. The current study aimed to test whether these ge</span><span style="font-family:Verdana;">nes were also differentially expressed in non-gonadal tissue, namely fins. We measured by qRT-PCR the mRNA levels of 29 known and novel sex-related genes in the gonads and fins of males (4 years old) and females (7 years old;sexual maturation is earlier in males than in females). Six genes (ATP6, IGFRM, LIA1A, S1A, NPL1A, GAPDH and SOX9) showed higher expression in female fin</span><span style="font-family:Verdana;">s. However, only ATP6 mRNA levels differed in fins of males and females of the same age (4 years old). These findings underscore the impracticality of sex identification based on gene expression in non-gonadal</span><span style="font-family:Verdana;"> tissue and the need for genetic sex markers in the Russian sturgeon.
基金supported by the Natural Science Foun-dation of Shandong Province,China(No.ZR2009DQ011)the New Teacher Special Fund of Doctor of the Ministry of Education of China(No.20090132120006)the Postdoctoral Innovative Projects of Shandong Province,China(No.200702039)
文摘As a specific gene of fish,cytochrome P450c17-Ⅱ(CYP17-Ⅱ) gene plays a key role in the growth,development and reproduction level of fish.In this study,the single-stranded conformational polymorphism(SSCP) technique was used to characterize polymorphisms within the coding region of CYP17-Ⅱ gene in a population of 75 male Japanese flounder(Paralichthys olivaceus).Three single nucleotide polymorphisms(SNPs) were identified in CYP17-Ⅱ gene of Japanese flounder.They were c.G594A(p.G188R),c.G939A and c.G1502A(p.G490D).SNP1(c.G594A),located in exon 4 of CYP17-Ⅱ gene,was significantly associated with gonadosomatic index(GSI).Individuals with genotype GG of SNP1 had significantly lower GSI(P < 0.05) than those with geno-type AA or AG.SNP2(c.G939A) located at the CpG island of CYP17-Ⅱ gene.The mutation changed the methylation of exon 6.Indi-viduals with genotype AA of SNP2 had significantly lower serum testosterone(T) level and hepatosomatic index(HSI) compared to those with genotype GG.The results suggested that SNP2 could influence the reproductive endocrine of male Japanese flounder.How-ever,the SNP3(c.G1502A) located in exon 9 did not affect the four measured reproductive traits.This study showed that CYP17-Ⅱ gene could be a potentially useful candidate gene for the research of genetic breeding and physiological aspects of Japanese flounder.
文摘Mouse TGF-β1 gene was microinjected into male pronuclei of F2 hybrid fertilized eggs obtained by mating CSJLF1 and C57BL/6J inbred strains to generate transgenic mice with over-expressed TGF-β1 gene. The rate of founder production is 31% and Southern blot analysis of founder mice tail DNAS gave an integration efficiency of 33%. TGF-β1 gene could be stably integrated to the chromosomes of transgenic mice and transmitted to their progeny at a rate of 33% in the second generation. Dot blot analysis of tail RNA of some transgenic mice indicated a moderate expression of the transgene. The most interesting finding of the present work is the striking deviation from the normal male:female sex ratio in transgenic mice,with an average ratio of 6.7:1. The possible nature of the predominance of male sex in transgenic mice overexpressing TGF-β1 is discussed.
文摘目的:分析46,XX睾丸型性腺发育异常患者的遗传和临床资料,为加深对该疾病的认识提供依据。方法:收集2017年1月至2023年1月在南京医科大学第一附属医院生殖中心被诊断为46,XX睾丸型性腺发育异常的患者资料,分析其遗传学和临床资料特征,并对SRY阳性患者取外周血进行SRY基因染色体定位分析。结果:(1)共26例患者被纳入研究,所有患者染色体核型均为46,XX,且AZFa、b、c区全部缺失。患者身高为(168.3±5.9)cm,体重为(64.0±7.5)kg,BMI为(22.66±2.79)kg/m^(2),左侧睾丸体积(2.53±1.16)ml,右侧睾丸体积:(2.74±1.34)ml。精液量为1.35(0.18~2.78)ml,FSH(36.85±18.01)IU/L,LH(19.71±9.71)IU/L,T(6.08±2.71)nmol/L。3例患者最高学历是大学本科,其余均为本科以下学历。(2)SRY阳性患者20例,SRY阴性患者6例。与SRY阳性患者相比,SRY阴性患者合并有生殖系统发育异常问题概率较高(5/6 vs 3/20,P=0.004),而两组在身高、体重、BMI、生殖激素,睾丸体积等参数差异均无统计学意义。(3)14例SRY基因定位分析显示:13例定位于Xp末端,1例定位于15p末端。结论:46,XX睾丸型性腺发育异常患者在遗传学和临床特征上呈现出一定相似性和异质性,需要寻求更好的方案提高患者的生活质量和生活满意度。