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題 名 | Study of Human Y Chromosome Polymorphism in Taiwan=臺灣地區之人類Y染色體多形性研究 |
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作 者 | 侯家瑋; 王作仁; | 書刊名 | 臺灣兒科醫學會雜誌 |
卷 期 | 40:5 民88.09-10 |
頁 次 | 頁302-304+357 |
分類號 | 417.133 |
關鍵詞 | Y染色體; 多形性; Y chromosome; Polymorphism; |
語 文 | 英文(English) |
中文摘要 | Y染色體是人類染色體中富含構造性異核染質的典型例子之一。本文乃研究男性Y 染色體多形性之盛行率及其可能的臨床影響。總共有6286名無血緣關係的臺灣地區男性接受 一般染色體檢查(有必要時加上分子細胞遺傳學分析),吾等發現Y染色體變異型之盛行率如 下:大Y(Yq+)有3.6%;中心體兩側所倒轉Y[inv(Y)]有0.27%;小Y(Yq-)則有0.59%;前兩者較西 方人為高。在智障男童,合併其它染色體異常或多重先天畸型者,與正常對照組三組男性其盛 行比率相近,因此吾等認為這些變異型Y染色體並不會造成外表或生殖功能的障礙。這些訊息 對染色體核型的判斷與遺傳諮詢工作具有釐清的效益。 |
英文摘要 | The Y chromosome is one of the human chromosomes carrying significant amount of constitutive heterochromatin. To investigate the prevalence of Y chromosome polymorphism and its clinical significance in Taiwan, we analyzed the Y chromosome among 6,286 unrelated males by G-banding and, if necessary, fluorescence in situ hybridization studies. The prevalence of the Y chromosome variants were: large Y (Yq+) 3.6%, pericentric inverted Y [inv(Y)] 0.27%, and small Y (Yq-) 0.59%, respectively. More than 99% of those variants were from their biological fathers. The incidence of the Y polymorphisms was similar in three groups: children with mental retardation, other chromosomal aberrations or multiple congenital anomalies, and normal controls The Yq12 heterochromatin region may contribute to the variation in Y chromosome length. The prevalence of inv (Y) and Yq+ was higher than those in the white population. Our results conclude that there are no indications that Yq+, inv(Y) and Yq are connected with any deviations in intelligence or with an increased risk of physical malformations or other chromosomal disorders, which is of great help for genetic counseling. |
本系統中英文摘要資訊取自各篇刊載內容。