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130例智力低下儿童脆性X检测报告 总被引:1,自引:1,他引:0
本文采用脆性 X检测技术对130例先天性智力低下儿童进行了细胞遗传学研究,结果共发现27例具有染色体异常。其中t(5;15)及t(8;12),inv(9)两例核型,经鉴定为世界首报核型;检出5例脆性X综合征,检出率为3.77%,占异常核型的18.5%。
Abstract:The cytogenetic study was made on 130 mentally retarded children with the technique of Fra(X) detection.Among the 27 mentally retarded children with chromosomal abnormalities found in the study,the two karyotypes of t (5;15) and t (8;21),inv(9) were first reported in the literature.of the 130 mentally retarded cases,5 had fragile (X) syndrome (3.77%).The syndrome accounted for 18.5% in the abnormal karyotypes. 相似文献
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王应太 王兆才 杨艳丽 黄飞飞 廖世秀 蒋瑞英 王怀立WANG Ying-Tai WANG Zhao-Cai YANG Yan-Li HUANG Fei-Fei LIAO Shi-Xiu JIANG Rui-YingWANG Huai-Li 《遗传》1997,19(1):28-29
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。 相似文献
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河南汉族群体6个STR基因座遗传多态性研究 总被引:3,自引:0,他引:3
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。 相似文献
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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. 相似文献
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河南汉族群体短串联重复vWA遗传多态性研究 总被引:1,自引:1,他引:0
研究人类短串联重复序列vWA在河南汉族人群中遗传多态性,探讨该基因座在法医学和基因诊断中的应用的可能性;同时和中国成都人群、美国黑人、高加索人群、西班牙人群、西班牙南方人群的vWA遗传多态性进行比较,以期了解该基因座在人种、地域上是否有差异。采集河南地区无血缘关系汉族个体血样,应用Chelex法提取DNA,聚合酶链式反应扩增,非变性聚丙烯酰胺凝胶电泳分型,χ2检验。得到vWA在河南汉族群体中的基因频率,有8个等位基因,24个基因型,杂合度为0.80,个体识别率为0.84,非父排除率为0.61;河南汉族人群和中国成都人群vWA遗传多态性无显著性差异(χ2=9.6, P>0.05),而与美国黑人群(χ2=118,48,P<0.05)、高加索人群(χ2=45.48,P<0.05)、西班牙人群(χ2=86.87,P<0.05)、西班牙南方人群(χ2=85.68,P<0.05)均有显著性差异。说明该基因座多态性较好,分布符合Hardy-Weinberg 平衡,可以用于个体识别和亲权鉴定。同时也说明河南汉族人群具有一定的代表性,其群体遗传特征的调查研究对群体遗传学和人类学有着重要意义。
Genetic Polymorphisms of Human Short Tandem Repeat vWA
LI Yi,HAO Bing-tao,YANG Yan-li,ZHU Wen-yu,SI Yan-mei,WANG Ying-tai
(Genetics Department,the People`s Hospital of Henan Province,Zhengzhou 450003,China)
Abstract:We researched the genetic polymorphisms of vWA in Henan population and its usfulness in forensic science.DNA extracted from non-relative persons in Henan population with Chelex was amplified by polymerase chain reaction and was typed by nondenaturing polyacrylamide gel electrophoresis silver staining.A total of 8 alleles and 19 genotypes were found in Henan population,its heterozygosity is high and the locus can be used in forensic genetics.We obtained the allelic frequency of the locus vWA in Henan population.The results of amniotic fluid,villus,blood stain indicate vWA is a good locus for forensic study.
Key words:polymorphism; short tandem repeats; polymerase chain reaction; vWA 相似文献
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