Y染色体多态性与临床遗传学效应的研究
发布时间:2018-01-12 05:30
本文关键词:Y染色体多态性与临床遗传学效应的研究 出处:《中国妇幼保健》2013年25期 论文类型:期刊论文
【摘要】:目的:探讨Y染色体多态性的临床遗传效应。方法:对因配偶自然流产史、育儿智力低下或本人发育异常、不育等进行遗传咨询的男性病例进行外周血淋巴细胞培养和G显带染色体核型分析。结果:检出183例Y染色体呈多态性,其中148例46,XY,Y≥18;30例46,XY,Y≤21;3例46,X,Yqs;1例46,X,Yq-;1例46,X,Yp+。148例大Y病例中,91例与自然流产相关;34例与配偶不良孕史相关,包括:神经管畸形、唇腭裂、消化道畸形、心脏畸形等;7例智力低下;6例性腺发育不良;10例不育。小Y病例主要与流产、智力低下、性腺发育不良、无精子症等相关。结论:Y染色体的多态性具有临床遗传效应,它与流产、发育异常及智力低下有关。
[Abstract]:Objective: to investigate the clinical genetic effect of Y chromosome polymorphism. The peripheral blood lymphocyte culture and karyotype analysis of G banding chromosomes in male patients with infertility and other genetic counseling were carried out. Results: 183 cases of Y chromosome were found to be polymorphic, of which 148 cases were 46 XY cases. Y 鈮,
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