Y染色体多态性与临床遗传学效应的研究

Study on Y chromosome polymorphism and clinical genetic effect

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。

Objective： To explore the clinical genetic effect of Y chromosome polymorphism. Methods： Lymphocyte culture and G - band chromosomal karyotyping were conducted among the male patients whose couples with spontaneous abortion history, whose infants with hypophrenia or with dysplasia and infertility of their own. Results： Y chromosome polymorphism was found in 183 male patients, inclu- ding 148 male patients with 46, XY, Y≥18; 30 male patients with 46, XY, Y≤21; 3 male patients with 46, X, Yqs; 1 male patient with46, X, Yq-; 1 male patient with46, X, Yp＋. Among 148 male patientswith46, XY, Y≥18, 91 male patientswere correlated with spontaneous abortion, 34 male patients were correlated with spontaneous abortion history （including neural tube defects, cleft lip and palate, digestive tract malformation, heart malformation） of their couples, 7 male patients were correlated with hypophrenia of their infants, 6 male patients were correlated with gonadal dysgenesis, 10 male patients were correlated with infertility. Thirty male patients with 46, XY, Y ≤21 were mainly correlated with abortion, hypophrenia, gonadal dysgenesis, and azoospermatism. Conclusion： Y chromosome polymor- phism has clinical genetic effect, which is related to abortion, dysplasia and hypophrenia.