河南汉族群体6个STR基因座遗传多态性研究

对河南省河南籍汉族群体的6个短串联重复序列（Short tandem repeats,STR)基因座等位基因频率进行研究,得到河南汉族群体F13A1,F13B,D8S1179,CSF1PO,D5S818,TPOX基因座的群体遗传学依据。EDTA抗凝血样采自河南122名无血缘关系的汉族个体,采用Chelex法抽提DNA,PCR扩增,非变性聚丙烯酰胺垂直凝胶电泳,银染显色分析,得到6个基因座的等位基因频率,各基因座的杂合度分别为：0.62,0.46,0.83,0.59,0.78,0.65;人体识别率分别为0.78,0.66,0.95,0.79,0.92,0.82。6个STR基因座具有较高的杂合度,等位基因分布符合Hardy-Weinberg平衡,是较理想的遗传标记,可用于法医学个本识别和亲权鉴定。     

猫叫综合征一家系高分辨染色体分析

本文采用高分辨染色体技术,对一例猫叫综合征患儿及其家系进行了分析,结 果提示,猫叫综合征染色体关键片段位于5p15.3→5pter。     

河南地区新生儿染色体畸变的流行病学调查

为了解河南地区群体染色体畸变发病率情况,研究可能与染色体畸变有关的 因素及再现风险。综合运用多种现代细胞遗传学技术对3068例新生儿进行染色体核型分析,并对染色体核型异常者进行家系分析、再现风险及病例对照研究。结果表明:河南地区新生儿染色体畸变发生率为2.74%;其中13.1%由亲代遗传,86.9%为子代新生突变;病例组84例中有46例再次生育,再现染色体畸变8例,染色体畸变再发生率为17.39%;孕妇高龄、异常妊娠史、妊娠期间致畸因素接触史及胎儿宫内发育迟缓等可能是新生儿染色体畸变的高危因素。 Abstract:To investigate the incidence of chromosomal aberrations and recurrence risk in Henan and inqure into the risk factors resulting in newborn chromosomal aberrations,3 068 newbors were karyotyped with several advanced cytogenetic methods.The result showed the incidence of chromosomal aberrations was 2.74%(84cases),only 13.1% out of 84 aberrations were transmitted from the previous generation and 86.9% arose de novo.Within 46 second babies being born after their sibling with chromosomal aberrations,8 were abnormal karyotypes,the recurrence rate was 17.39%.The case-control study showed mothers with advanced age,mothers exposure to detrimental factors in pregancy and mothers with abnormal reproductive histories,intranter growth retardation may be the risk factors resulting in chromosomal aberrations.     

47例染色体异常患者永生淋巴细胞株的建立

采用4种不同的血细胞/EB病毒（Epstein-Barr Virus,EBV）比率系列转染冻存血方法建立永生淋巴细胞株,建株成功率达97.87%,并成功地对47例染色体异常患者建立了永生淋巴细胞株,为今后不断进行的深入研究奠定了基础。