Shrimps of genus Artemia are the inhabitants of continental and marine waters with salinity of 70 to 350 g/l and above.Artemia is able to survive in the conditions in which other animals cannot exist.This is due to ad...Shrimps of genus Artemia are the inhabitants of continental and marine waters with salinity of 70 to 350 g/l and above.Artemia is able to survive in the conditions in which other animals cannot exist.This is due to adaptations:effective osmoregulation system,the ability to synthesize of respiratory pigment(hemoglobin)and diapauses cysts(Litvinenko at.al.,2009).Cysts of this展开更多
Background: Cytogenetic analysis is a valuable investigation in the diagnostic work up of children with suspected chromosomal disorders. The objective of this study was to describe the prevalence of various types of c...Background: Cytogenetic analysis is a valuable investigation in the diagnostic work up of children with suspected chromosomal disorders. The objective of this study was to describe the prevalence of various types of chromosomal abnormalities in Sri Lankan children undergoing cytogenetic analysis. Methods: Cytogenetic reports of 1554 consecutive children with suspected chromosomal disorders who underwent karyotyping in two genetic centers in Sri Lanka from January 2006 to December 2011 were reviewed retrospectively. Results: A total of 1548 children were successfully karyotyped. Abnormal karyotypes were found in 783 (50.6%) children. Numerical and structural abnormalities accounted for 90.8% and 9.2%, respectively. Down syndrome was the commonest aneuploidy identifi ed. Other various autosomal and sex chromosomal aneuploidies as well as micro-deletion syndromes were also detected. Conclusions: The prevalence of chromosomal abnormalities in Sri Lankan children undergoing cytogenetic analysis for suspected chromosomal disorders was relatively higher than that in Caucasian and other Asian populations.展开更多
BACKGROUND Tetrasomy 18p is a rare chromosome abnormality disorder known to have consid-erable variability in clinical features and gathering data from different cases will help clinicians and researchers learn about ...BACKGROUND Tetrasomy 18p is a rare chromosome abnormality disorder known to have consid-erable variability in clinical features and gathering data from different cases will help clinicians and researchers learn about its genotype-phenotype relationship and diagnosis.CASE SUMMARY Herein,we have reviewed the literature on phenotypic features of this disorder and described the phenotypic and cytogenetic features of a girl of early childhood with tetrasomy 18p for the first time from Iran.This patient showed a strong sense of smell(a unique feature not reported previously for this syndrome),had clenched hand,pes planus,forward head posture in walking and hirsutism(dysmorphic features less reported),and showed 10 clinical features that are generally observed in previously reported cases,including developmental delay/intellectual disability,triangular face,smooth philtrum,feeding difficulties,hypotonia,epicanthus,strabismus,history of constipation,growth retardation and foot anomalies.G-banding chromosome analysis from peripheral blood revealed an abnormal female karyotype with a small marker chromosome(47,XX,+mar),and oligo-array comparative genomic hybridization displayed a gain of 14Mb of the 18p arm containing 56 Online Mendelian Inheritance in Man(OMIM)genes in this patient.Overall,this patient seems to have mild phenotypes.CONCLUSION This Iranian tetrasomy 18p child displays a uniquely strong sense of smell,some less reported dysmorphic features and ten features generally reported.展开更多
Erianthus arundinaceus is an important, closely related genus of Saccharum officinarum L. It is therefore important to understand how the chromosomes are transmitted when it hybridizes with sugarcane. The hybrids and ...Erianthus arundinaceus is an important, closely related genus of Saccharum officinarum L. It is therefore important to understand how the chromosomes are transmitted when it hybridizes with sugarcane. The hybrids and backcross progenies of S. officinarum and E. arundinaceus and their parents were used for Karyotype analysis and to study the law of chromosome transmission. The results showed that the somatic chromosome number of both of the E. arundinaceus Hainan92-105 and Hainan92-77 were 2n = 60 = 60sm, belonging to type 1 A, and the BC1 YC01-21 was 2n = 104 = 100m ＋ 4sm, belonging to type 2C. The other six tested clones belonged to type 2B. The both F1s YC96-66 and YC96-40 that originated from Badila （2n = 80 = 70m ＋ 10sm） with E. Arundinaceus were 2n = 70 = 68m ＋ 2sm, which suggests an n ＋ n transmission. The cross between YC96-66 （female parent） and CP84-1198 （male parent, 2n = 120 = 114m ＋ 6sm） also followed the same genetic law and the somatic chromosome number of their progeny, YC01-3 （2n = 105 = 95m ＋ 10sm）. The cross derived from YC96- 40 （female） and CP84-1198 （male）, YC01-21 had 2n = 104 = 100m ＋ 4sm chromosomes, following the same genetic law of n ＋ n. However, YC01-36 had 2n = 132 = 130m ＋ 2sm chromosomes, which suggests a 2n ＋ n chromosome transmission. It can be inferred that the inheritance of chromosomes was very complex in the BC1. The difference in chromosome number between clones was as high as 28. This could be explained by the 2n ＋ n transmission of chromosomes. In addition, as there was not be a regular number of haploids, this phenomenon is termed as disequilibrium hybridization.展开更多
To investigate the cytogenetic parameters and characterise the chromosomal banding pattern of Tho-Tho cattle, a breed of indigenous cattle found in the Northeastern states of India were reared for meat purpose. Lympho...To investigate the cytogenetic parameters and characterise the chromosomal banding pattern of Tho-Tho cattle, a breed of indigenous cattle found in the Northeastern states of India were reared for meat purpose. Lymphocyte culture technique was carried out in 28 Tho-Tho cattle and culture was harvested for good metaphase spread. Good metaphase spreads were selected for analysis, such as relative length, centromeric index and arm ratio. Centromeric banding （C-banding） and reverse banding （R-banding） methods were done for detail and better understanding of the chromosome morphology. The chromosome number in Tho-Tho cattle was observed to be 2n = 60 in all complete metaphase. The mean relative length of the autosomal chromosomes varied from 5.48% ：~ 0.107% to 1.79% ＋ 0.105% in male and 5.31% ：E 0.148% to 1.86% ＋ 0.055% in female, respectively. The chromosome banding showed C-positive dark band heterochromatin in all the acrocentric autosome. However, in sex chromosome, the Y-chromosome showed negative C-band and also the X-chromosome did not show any stain at the centromeric region. The numbers of R-band pattern were observed to be 490 and 499 band in male and female, respectively. One of the X-chromosome showed light banding pattern, confirming the inactivation during the embryonic development in female. The fundamental chromosome number and banding pattern of Tho-Tho cattle did not vary from the other breed of the Bos indicus. However, it is necessary to start a cytogenetic screening of the Tho-Tho cattle and expand upon more number to be kept at different villages of Nagaland in order to identify animals with chromosomal abnormalities, so that it can be excluded from future breeding strategies for conservation of Tho-Tho genetic resource.展开更多
Multiplex reverse transcription-polymerase chain reaction （M-RT-PCR） has been proved to possess great clinical potential for simultaneous screening of 29 chromosomal translocations in acute leukemia. To evaluate the...Multiplex reverse transcription-polymerase chain reaction （M-RT-PCR） has been proved to possess great clinical potential for simultaneous screening of 29 chromosomal translocations in acute leukemia. To evaluate the clinical value of M-RT-PCR in hematologic malignancies, bone marrow samples from 90 patients with various hematologic malignancies, including 25 acute myelogenous leukemia （AML）, 22 acute lymphoblastic leukemia （ALL）, 27 chronic myelogenous leukemia （CML）, 4 myeloproliferative diseases （MPD）, 3 chronic lymphoblastic leukemia （CLL）, 3 non-Hodgkin＇s lymphoma （NHL）, 3 myelodysplastic syndrome （MDS）, 2 multiple myeloma （MM） and 1 malignant histocytosis （MH） were subjected to both M-RT-PCR and chromosome karyotypic analysis. Some of cases were subjected to follow-up examination of M-RT-PCR during the period of clinical complete remission （CR） for detection of minimal residual leukemia. In our hand, 12 of 29 chromosomal translocation transcripts including TEL/PDGFR, DEK/CAN, MLL/AF6, AMLI/ETO, MLL/AF9, BCR/ABL, MLL/MLL, PML/RARα, TLS/ERG, E2A/HLF, EVⅡ and HOXⅡ were detected in 57 cases （63.3 %） of the 90 samples, which were in consistence with the results of karyotypic analysis. Furthermore, M-RT-PCR had also shown good clinical relevance when used as an approach to detect minimal residual leukemia. We concluded that M-RT-PCR could be used as an efficient and fast diagnostic tool not only in the initial diagnosis of hematologic malignancies but also in subsequent monitor of minimal residual leukemia.展开更多
G-banding and karyotype analyses of cells in seventeen passages of SO-Rb_(50) during a long period of culture for about four years were performed. Three chromosome markers 13q14^-, 1p36^+ and 12p13^+ were found. Cells...G-banding and karyotype analyses of cells in seventeen passages of SO-Rb_(50) during a long period of culture for about four years were performed. Three chromosome markers 13q14^-, 1p36^+ and 12p13^+ were found. Cells possessed 13q14^- reduced to zero after the 200th passage while 1p^+ and 12p^+ cells increased to 100% after 30 and 200 passages respectively. Abnormal chromosomes, ring chromosomes, chromosome radiuses and double minutes were also observed. These chromosomal changes were more often seen b...展开更多
Objective\ To study the origination and reality of Askin tumor. Methods\ Twenty two cases of these lesions have been studied by clinical pathologic observation, immunohistochemistry, electron microscopy, and cytoge...Objective\ To study the origination and reality of Askin tumor. Methods\ Twenty two cases of these lesions have been studied by clinical pathologic observation, immunohistochemistry, electron microscopy, and cytogenics in this paper. Results\ The results revealed the positiveness of MIC2(CD99), NSE, Chromogranin A(CgA) by immunohistochemistry, neurosecretory granules by electron microscopy, and the specific genotypic translocation of t (11∶22) (q24∶q12) by cytogenetic analysis, which were identical to the malignant primitive neuroectodermal tumor (PNET). Conclusion\ We conclude that this lesion is actually the one member of the PNET/Ewing′s sarcoma family, except the special location. Differential diagnoses between this tumor and other small round cell sarcomas such as lymphoma, embryonal rhabdomyosarcoma, rhabdoid tumor, round cell liposarcoma and desmoplastic small round cell tumor were also discussed in this article.展开更多
Fluorescence in situ hybridization(FISH)evaluation is essential for initial risk stratification in multiple myeloma(MM).The presence of specific cytogenetic abnormalities(CA)confers a heterogeneity impact on prognosis...Fluorescence in situ hybridization(FISH)evaluation is essential for initial risk stratification in multiple myeloma(MM).The presence of specific cytogenetic abnormalities(CA)confers a heterogeneity impact on prognosis.However,the cutoff values among different centers are not uniform.Therefore,we conduct this study to better predict the prognosis of newly diagnosed MM patients based on FISH results.The Kaps method was used to calculate the chromosomal abnormal cutoff values.A total of 533 participants were included in the study.The best cutoff value of overall survival were as follows:17p20.1%,13q85%,1q21+39%,t(11;14)55.5%,t(14;16)87%,and t(4;14)53.5%.The survival analysis showed that 17pand 1q21+were the independent factors affecting both OS and progress free survival(PFS)among CA.The analysis based on the cutoff value obtained by Kaps suggested that 13q,t(14;16),17p,and 1q21+were independent factors affecting OS among CA;t(14;16),17p,and 1q21+were independent factors affecting PFS among CA.The prognostic model was constructed by the Kaps method with the Harrell concordance index(c-index)at 0.719(95%CI,0.683–0.756;corrected 0.707),which was higher than that calculated by the European Myeloma Network criteria(0.714;95%CI,0.678–0.751;corrected 0.696).In conclusion,chromosomal abnormalities in different proportions and combinations can affect the prognosis ofMMpatients.Therefore,effective criteria should be formulated to evaluate the prognosis ofMMpatients better.展开更多
文摘Shrimps of genus Artemia are the inhabitants of continental and marine waters with salinity of 70 to 350 g/l and above.Artemia is able to survive in the conditions in which other animals cannot exist.This is due to adaptations:effective osmoregulation system,the ability to synthesize of respiratory pigment(hemoglobin)and diapauses cysts(Litvinenko at.al.,2009).Cysts of this
文摘Background: Cytogenetic analysis is a valuable investigation in the diagnostic work up of children with suspected chromosomal disorders. The objective of this study was to describe the prevalence of various types of chromosomal abnormalities in Sri Lankan children undergoing cytogenetic analysis. Methods: Cytogenetic reports of 1554 consecutive children with suspected chromosomal disorders who underwent karyotyping in two genetic centers in Sri Lanka from January 2006 to December 2011 were reviewed retrospectively. Results: A total of 1548 children were successfully karyotyped. Abnormal karyotypes were found in 783 (50.6%) children. Numerical and structural abnormalities accounted for 90.8% and 9.2%, respectively. Down syndrome was the commonest aneuploidy identifi ed. Other various autosomal and sex chromosomal aneuploidies as well as micro-deletion syndromes were also detected. Conclusions: The prevalence of chromosomal abnormalities in Sri Lankan children undergoing cytogenetic analysis for suspected chromosomal disorders was relatively higher than that in Caucasian and other Asian populations.
文摘BACKGROUND Tetrasomy 18p is a rare chromosome abnormality disorder known to have consid-erable variability in clinical features and gathering data from different cases will help clinicians and researchers learn about its genotype-phenotype relationship and diagnosis.CASE SUMMARY Herein,we have reviewed the literature on phenotypic features of this disorder and described the phenotypic and cytogenetic features of a girl of early childhood with tetrasomy 18p for the first time from Iran.This patient showed a strong sense of smell(a unique feature not reported previously for this syndrome),had clenched hand,pes planus,forward head posture in walking and hirsutism(dysmorphic features less reported),and showed 10 clinical features that are generally observed in previously reported cases,including developmental delay/intellectual disability,triangular face,smooth philtrum,feeding difficulties,hypotonia,epicanthus,strabismus,history of constipation,growth retardation and foot anomalies.G-banding chromosome analysis from peripheral blood revealed an abnormal female karyotype with a small marker chromosome(47,XX,+mar),and oligo-array comparative genomic hybridization displayed a gain of 14Mb of the 18p arm containing 56 Online Mendelian Inheritance in Man(OMIM)genes in this patient.Overall,this patient seems to have mild phenotypes.CONCLUSION This Iranian tetrasomy 18p child displays a uniquely strong sense of smell,some less reported dysmorphic features and ten features generally reported.
基金supported by the National Natural Science Foudation of China (30671329)the National Key Technologies R&D Program of Chinaduring the 11th Five-Year Plan period (2006BAD06-4)
文摘Erianthus arundinaceus is an important, closely related genus of Saccharum officinarum L. It is therefore important to understand how the chromosomes are transmitted when it hybridizes with sugarcane. The hybrids and backcross progenies of S. officinarum and E. arundinaceus and their parents were used for Karyotype analysis and to study the law of chromosome transmission. The results showed that the somatic chromosome number of both of the E. arundinaceus Hainan92-105 and Hainan92-77 were 2n = 60 = 60sm, belonging to type 1 A, and the BC1 YC01-21 was 2n = 104 = 100m ＋ 4sm, belonging to type 2C. The other six tested clones belonged to type 2B. The both F1s YC96-66 and YC96-40 that originated from Badila （2n = 80 = 70m ＋ 10sm） with E. Arundinaceus were 2n = 70 = 68m ＋ 2sm, which suggests an n ＋ n transmission. The cross between YC96-66 （female parent） and CP84-1198 （male parent, 2n = 120 = 114m ＋ 6sm） also followed the same genetic law and the somatic chromosome number of their progeny, YC01-3 （2n = 105 = 95m ＋ 10sm）. The cross derived from YC96- 40 （female） and CP84-1198 （male）, YC01-21 had 2n = 104 = 100m ＋ 4sm chromosomes, following the same genetic law of n ＋ n. However, YC01-36 had 2n = 132 = 130m ＋ 2sm chromosomes, which suggests a 2n ＋ n chromosome transmission. It can be inferred that the inheritance of chromosomes was very complex in the BC1. The difference in chromosome number between clones was as high as 28. This could be explained by the 2n ＋ n transmission of chromosomes. In addition, as there was not be a regular number of haploids, this phenomenon is termed as disequilibrium hybridization.
文摘To investigate the cytogenetic parameters and characterise the chromosomal banding pattern of Tho-Tho cattle, a breed of indigenous cattle found in the Northeastern states of India were reared for meat purpose. Lymphocyte culture technique was carried out in 28 Tho-Tho cattle and culture was harvested for good metaphase spread. Good metaphase spreads were selected for analysis, such as relative length, centromeric index and arm ratio. Centromeric banding （C-banding） and reverse banding （R-banding） methods were done for detail and better understanding of the chromosome morphology. The chromosome number in Tho-Tho cattle was observed to be 2n = 60 in all complete metaphase. The mean relative length of the autosomal chromosomes varied from 5.48% ：~ 0.107% to 1.79% ＋ 0.105% in male and 5.31% ：E 0.148% to 1.86% ＋ 0.055% in female, respectively. The chromosome banding showed C-positive dark band heterochromatin in all the acrocentric autosome. However, in sex chromosome, the Y-chromosome showed negative C-band and also the X-chromosome did not show any stain at the centromeric region. The numbers of R-band pattern were observed to be 490 and 499 band in male and female, respectively. One of the X-chromosome showed light banding pattern, confirming the inactivation during the embryonic development in female. The fundamental chromosome number and banding pattern of Tho-Tho cattle did not vary from the other breed of the Bos indicus. However, it is necessary to start a cytogenetic screening of the Tho-Tho cattle and expand upon more number to be kept at different villages of Nagaland in order to identify animals with chromosomal abnormalities, so that it can be excluded from future breeding strategies for conservation of Tho-Tho genetic resource.
文摘Multiplex reverse transcription-polymerase chain reaction （M-RT-PCR） has been proved to possess great clinical potential for simultaneous screening of 29 chromosomal translocations in acute leukemia. To evaluate the clinical value of M-RT-PCR in hematologic malignancies, bone marrow samples from 90 patients with various hematologic malignancies, including 25 acute myelogenous leukemia （AML）, 22 acute lymphoblastic leukemia （ALL）, 27 chronic myelogenous leukemia （CML）, 4 myeloproliferative diseases （MPD）, 3 chronic lymphoblastic leukemia （CLL）, 3 non-Hodgkin＇s lymphoma （NHL）, 3 myelodysplastic syndrome （MDS）, 2 multiple myeloma （MM） and 1 malignant histocytosis （MH） were subjected to both M-RT-PCR and chromosome karyotypic analysis. Some of cases were subjected to follow-up examination of M-RT-PCR during the period of clinical complete remission （CR） for detection of minimal residual leukemia. In our hand, 12 of 29 chromosomal translocation transcripts including TEL/PDGFR, DEK/CAN, MLL/AF6, AMLI/ETO, MLL/AF9, BCR/ABL, MLL/MLL, PML/RARα, TLS/ERG, E2A/HLF, EVⅡ and HOXⅡ were detected in 57 cases （63.3 %） of the 90 samples, which were in consistence with the results of karyotypic analysis. Furthermore, M-RT-PCR had also shown good clinical relevance when used as an approach to detect minimal residual leukemia. We concluded that M-RT-PCR could be used as an efficient and fast diagnostic tool not only in the initial diagnosis of hematologic malignancies but also in subsequent monitor of minimal residual leukemia.
文摘G-banding and karyotype analyses of cells in seventeen passages of SO-Rb_(50) during a long period of culture for about four years were performed. Three chromosome markers 13q14^-, 1p36^+ and 12p13^+ were found. Cells possessed 13q14^- reduced to zero after the 200th passage while 1p^+ and 12p^+ cells increased to 100% after 30 and 200 passages respectively. Abnormal chromosomes, ring chromosomes, chromosome radiuses and double minutes were also observed. These chromosomal changes were more often seen b...
文摘Objective\ To study the origination and reality of Askin tumor. Methods\ Twenty two cases of these lesions have been studied by clinical pathologic observation, immunohistochemistry, electron microscopy, and cytogenics in this paper. Results\ The results revealed the positiveness of MIC2(CD99), NSE, Chromogranin A(CgA) by immunohistochemistry, neurosecretory granules by electron microscopy, and the specific genotypic translocation of t (11∶22) (q24∶q12) by cytogenetic analysis, which were identical to the malignant primitive neuroectodermal tumor (PNET). Conclusion\ We conclude that this lesion is actually the one member of the PNET/Ewing′s sarcoma family, except the special location. Differential diagnoses between this tumor and other small round cell sarcomas such as lymphoma, embryonal rhabdomyosarcoma, rhabdoid tumor, round cell liposarcoma and desmoplastic small round cell tumor were also discussed in this article.
基金This work was supported in part by National Natural Science Foundation of China(NFSC 81372543 and NFSC 81870164).
文摘Fluorescence in situ hybridization(FISH)evaluation is essential for initial risk stratification in multiple myeloma(MM).The presence of specific cytogenetic abnormalities(CA)confers a heterogeneity impact on prognosis.However,the cutoff values among different centers are not uniform.Therefore,we conduct this study to better predict the prognosis of newly diagnosed MM patients based on FISH results.The Kaps method was used to calculate the chromosomal abnormal cutoff values.A total of 533 participants were included in the study.The best cutoff value of overall survival were as follows:17p20.1%,13q85%,1q21+39%,t(11;14)55.5%,t(14;16)87%,and t(4;14)53.5%.The survival analysis showed that 17pand 1q21+were the independent factors affecting both OS and progress free survival(PFS)among CA.The analysis based on the cutoff value obtained by Kaps suggested that 13q,t(14;16),17p,and 1q21+were independent factors affecting OS among CA;t(14;16),17p,and 1q21+were independent factors affecting PFS among CA.The prognostic model was constructed by the Kaps method with the Harrell concordance index(c-index)at 0.719(95%CI,0.683–0.756;corrected 0.707),which was higher than that calculated by the European Myeloma Network criteria(0.714;95%CI,0.678–0.751;corrected 0.696).In conclusion,chromosomal abnormalities in different proportions and combinations can affect the prognosis ofMMpatients.Therefore,effective criteria should be formulated to evaluate the prognosis ofMMpatients better.
