Supernumerary marker chromosome 15 （sSMC[15]） is the most frequent marker chromosome, and it is generally regarded as unimportant if it does not contain the Prader-Willi/Angelman syndrome critical region （PWACR）. ...Supernumerary marker chromosome 15 （sSMC[15]） is the most frequent marker chromosome, and it is generally regarded as unimportant if it does not contain the Prader-Willi/Angelman syndrome critical region （PWACR）. The clinical importance of the larger markers in association with the critical region is mentioned in almost all reports related to marker chromosome 15, and smaller markers are solely associated with minor dysmorphic features, azoospermia and recurrent miscarriages. However, these small sSMC（15）s without the PWACR may also determine a specific phenotype. A dysmorphic examination of an azoospermic patient in a genetics clinic was performed and was followed by a peripheral blood lymphocyte chromosomal analysis according to standard cytogenetic methods. Nucleolar region （NOR） banding, C-banding, fluorescence in situ hybridization and a molecular investigation of Y-microdeletions were also performed. The clinical evaluation identified dysmorphic features accompanied with azoospermia and severe ‘Angle Class Ⅱ, Division 1 Open Bite Deformity＇. The molecular cytogenetic study revealed the small sSMC（15）. In addition, a Y-microdeletion analysis showed that the azoospermia was not the result of a deletion. Although the presented case might represent a coincidental example of supernumerary marker 15 and mandibular anomaly association, the condition may also define a specific phenotype that may be more than azoospermia. This condition may be characterized by infertility, malar hypoplasia, mandibular anomaly, keloid formation and minor dysmorphic features.展开更多
CSB14Sh,which is isogenic for its recurrent parent TM-1 except for chromosome 14 short arm,was crossed with TM-1,and the F2 population was produced.A total of 3800 SSR primer pairs covering the whole genome were used ...CSB14Sh,which is isogenic for its recurrent parent TM-1 except for chromosome 14 short arm,was crossed with TM-1,and the F2 population was produced.A total of 3800 SSR primer pairs covering the whole genome were used to screen polymorphism among two parents,TM-1 and CSB14Sh,展开更多
A consensus sequence, encoding a putative DNA polymerase type B derived from a Polinton transposon, was assembled from the sex determination region of Xiphophorus maculatus. This predicted protein, which is 1,158 aa i...A consensus sequence, encoding a putative DNA polymerase type B derived from a Polinton transposon, was assembled from the sex determination region of Xiphophorus maculatus. This predicted protein, which is 1,158 aa in length, contains a DNAA_pol_B_2 domain and a DTDS motif. The DNA polymerase type B gene has about 10 copies in the haploid X. maculatus genome with one Y-specific copy. Interestingly, it has specific copies on the W chromosome in the X. maculatus Usumacinta strain （sex determination with female het- erogamety）, which represent new markers for this type of sex chromosome in platyfish. This marker with W- and Y-specific copies suggests relationship between different types of gonosomes and allows comparing male and female heterogameties in the platyfish. Further molecular analysis of the DNA polymerase type B gene in X. maculatus will shed new light on the evolution of sex chromosomes in platyfish.展开更多
Objective To further define the extent of chromosome 9p21 deletion in periampullary neoplasms.Methods The loss of heterozygosity at 5 microsatellite polymorphic markers on chromosome 9p21 was detected by polymerase ...Objective To further define the extent of chromosome 9p21 deletion in periampullary neoplasms.Methods The loss of heterozygosity at 5 microsatellite polymorphic markers on chromosome 9p21 was detected by polymerase chain reaction (PCR), polyacrylamide gel electrophoresis (PAGE) and silver staining in 35 specimens of periampullary neoplasms and their matching blood samples.Results Fifty percent (4/8) of pancreatic cancer cases showed the loss of heterozygosity at one or more microsatellite loci, with the more frequent sites of D9S974 (37.5%) and D9S942 (28.6%), and some showing consecutive allelic loss. Sixty-two point five percent (5/8) of ampullary carcinoma cases showed loss of heterozygosity at one or more of the loci, frequent site of loss being D9S942 (42.9%) and the next most frequent being IFNA (37.5%) and D9S171 (37.5%). Loss of one locus was observed in 14.2% (1/7) of insulinoma. Conclusion The minimal common region of chromosome deletion in periampullary neoplasms is defined between the D9S974 and D9S942 loci within a 15?kb interval in 9p21, suggesting the involvement of a novel tumor suppressor gene in their carcinogenesis.展开更多
文摘Supernumerary marker chromosome 15 （sSMC[15]） is the most frequent marker chromosome, and it is generally regarded as unimportant if it does not contain the Prader-Willi/Angelman syndrome critical region （PWACR）. The clinical importance of the larger markers in association with the critical region is mentioned in almost all reports related to marker chromosome 15, and smaller markers are solely associated with minor dysmorphic features, azoospermia and recurrent miscarriages. However, these small sSMC（15）s without the PWACR may also determine a specific phenotype. A dysmorphic examination of an azoospermic patient in a genetics clinic was performed and was followed by a peripheral blood lymphocyte chromosomal analysis according to standard cytogenetic methods. Nucleolar region （NOR） banding, C-banding, fluorescence in situ hybridization and a molecular investigation of Y-microdeletions were also performed. The clinical evaluation identified dysmorphic features accompanied with azoospermia and severe ‘Angle Class Ⅱ, Division 1 Open Bite Deformity＇. The molecular cytogenetic study revealed the small sSMC（15）. In addition, a Y-microdeletion analysis showed that the azoospermia was not the result of a deletion. Although the presented case might represent a coincidental example of supernumerary marker 15 and mandibular anomaly association, the condition may also define a specific phenotype that may be more than azoospermia. This condition may be characterized by infertility, malar hypoplasia, mandibular anomaly, keloid formation and minor dysmorphic features.
文摘CSB14Sh,which is isogenic for its recurrent parent TM-1 except for chromosome 14 short arm,was crossed with TM-1,and the F2 population was produced.A total of 3800 SSR primer pairs covering the whole genome were used to screen polymorphism among two parents,TM-1 and CSB14Sh,
基金supported by the grants from the Biofuture Programme of the German Federal Ministry for Education and Research (BMBF,to JNV),the French Research Agency (ANR to JNV)the Scientific Research Foundation for the Returned Overseas Chinese Scholars,the Ministry of Education of China (to QZ)
文摘A consensus sequence, encoding a putative DNA polymerase type B derived from a Polinton transposon, was assembled from the sex determination region of Xiphophorus maculatus. This predicted protein, which is 1,158 aa in length, contains a DNAA_pol_B_2 domain and a DTDS motif. The DNA polymerase type B gene has about 10 copies in the haploid X. maculatus genome with one Y-specific copy. Interestingly, it has specific copies on the W chromosome in the X. maculatus Usumacinta strain （sex determination with female het- erogamety）, which represent new markers for this type of sex chromosome in platyfish. This marker with W- and Y-specific copies suggests relationship between different types of gonosomes and allows comparing male and female heterogameties in the platyfish. Further molecular analysis of the DNA polymerase type B gene in X. maculatus will shed new light on the evolution of sex chromosomes in platyfish.
文摘Objective To further define the extent of chromosome 9p21 deletion in periampullary neoplasms.Methods The loss of heterozygosity at 5 microsatellite polymorphic markers on chromosome 9p21 was detected by polymerase chain reaction (PCR), polyacrylamide gel electrophoresis (PAGE) and silver staining in 35 specimens of periampullary neoplasms and their matching blood samples.Results Fifty percent (4/8) of pancreatic cancer cases showed the loss of heterozygosity at one or more microsatellite loci, with the more frequent sites of D9S974 (37.5%) and D9S942 (28.6%), and some showing consecutive allelic loss. Sixty-two point five percent (5/8) of ampullary carcinoma cases showed loss of heterozygosity at one or more of the loci, frequent site of loss being D9S942 (42.9%) and the next most frequent being IFNA (37.5%) and D9S171 (37.5%). Loss of one locus was observed in 14.2% (1/7) of insulinoma. Conclusion The minimal common region of chromosome deletion in periampullary neoplasms is defined between the D9S974 and D9S942 loci within a 15?kb interval in 9p21, suggesting the involvement of a novel tumor suppressor gene in their carcinogenesis.
