Cytogenetic and Clinical Analysis of 340 Chinese Patients with Primary Amenorrhea

Objective To analyze the relationship between karyotypes and clinic features of patients with primary amenorrhea.Methods G banding was done for 340 patients with primary amenorrhea to facilitate individual chromosome identification,and if specific staining for certain portions of the chromosome was necessary,C banding was used.The clinical data were recorded by physical examination and ultrasound scanning.Results Karyotype analysis of the 340 patients revealed that 180(52.94%) patients had normal female karyotypes and 160(47.06%) patients had abnormal karyotypes.The abnormal karyotypes included abnormal X chromosome(150 patients),mosaic X-Y chromosome(4 patients),abnormal autosome(5 patients),and X-autosome translocation(1 patient).The main clinical manifestations in patients with primary amenorrhea were primordial or absent uterus(95.9%),invisible secondary sex features(68.8%),little or absent ovary(62.6%),and short stature(30.0%).The incidence of short stature in patients with X chromosome aberration(46%,69/150) was significangly higher that in patients with 46,XX(9.44%,17/180) as well as 46,XY(6.67%,3/45;χ2=146.25,P=0.000).All primary amenorrhea patients with deletion or break-point at Xp11.1-11.4 were short statures.Conclusions One of the main reasons of primary amenorrhea is choromosome abnormality,especially heterosome abnormality.It implies the need to routinely screen chromosomal anomalies for such patients.There might be relationship between Xp11.1-11.4 integrity and height improvement.

Differential Expression of Wnts, β-catenin and E-cadherin in hEFs and Normal, Abnormal Karyotype hES Cells during Culture in vitro

Human embryonic fibroblasts （hEFs） can well maintain the pluripotency in human embryonic stem cells （hESs）. However, recent research and reports indicated that a few of hES cell lines acquired genomic alteration during long-term culture of hES cells in vitro. This will directly restrict the therapy use of hES cells. Wnts are secreted lipid-modified signaling proteins that influence multiple processes ranging from cell proliferation to stem cell loss. Activation of Wnt signaling in many tissues has also been associated with cancer. Unchecked Wnt signaling and loss of cadherin expression can promote tumorigenesis. In this study, we found the caryotype of one hES cell line chHES-3 changed with duplication of 1 p32-1p36 area after 34 passages. The results of RT-PCR indicated Wnt7a was expressed in hEFs after culture normal karyotype hES cells, but not expressed in control and abnormal karyotype hES cells. Wnt3 was expressed in hEFs after culture abnormal karyotype hES cells, not expressed in control and normal karyotype hES cells. Wnt3, Wnt9a and WntlOb were detected weakly expression in normal hES cells, but higher in abnormal hES cells. At the same time, Wnt3a, Wnt4, Wnt5b, Wnt7a, Wnt8b and Wnt11 were expressed and E-cadherin was not tested in abnormal hES cells compared with normal hES cells. All that indicated Wnt7a was need for culture normal karyotype hES cells and Wnt3 was need for culture abnormal karyotype hES cells on hEFs. Wnt3, Wnt9a and WntlOb high expression in hES cells and absence of E-cadherin may cause hES cells karyotype change.

荆州地区性发育异常患者的细胞遗传学分析

目的探讨726例性发育异常、原发性闭经、不良孕产史患者的细胞遗传学分析。方法对患者外周血淋巴细胞行染色体常规G显带核型分析。结果726例性发育异常患者染色体异常检出率为10.22%;各组数目异常、性发育异常和原发性闭经患者结构异常多涉及性染色体;不良孕产史结构异常核型却以常染色体异常为主。结论对患者进行染色体的检查,对明确病因、鉴别诊断具有重要的意义。