DAZ基因区域Y染色体臂间倒位的断点。病例报告。

Breakpoint of a Y chromosome pericentric inversion in the DAZ gene area. A case report.

作者信息

Causio F, Canale D, Schonauer L M, Fischetto R, Leonetti T, Archidiacono N

机构信息

Department of Gynecology and Obstetrics, University of Bari, Italy.

出版信息

J Reprod Med. 2000 Jul;45(7):591-4.

PMID:10948474

Abstract

BACKGROUND

The presence of a spermatogenesis locus (gene or gene complex) in the euchromatic region of the long arm of the Y chromosome (Yq11), defined as azoospermia factor on the basis of gross structural rearrangement, was detected. The gene family responsible for different spermatogenetic defects is "deleted in azoospermia" (DAZ).

CASE

A 34-year-old man had oligozoospermia, and a cytogenetic analysis carried out on peripheral lymphocytes with G banding revealed a 46,X, inv(Y)(p11q11)karyotype. The relation between the chromosomal breakpoint and the DAZ gene was more precisely defined by a fluorescent in situ hybridization technique. We revealed two signals for the DAZ gene, weaker than normal, one on the short arm and the other on the long arm of the Y chromosome, indicating that the breakpoint was located at the DAZ gene level.

CONCLUSION

This is the first report documenting a chromosomal pericentric inversion with disruption in the DAZ gene area. We hope to obtain information on whether the disruption affects a functional zone of the gene and correlates with oligospermia at the chromosomal level.

摘要

背景

在Y染色体长臂（Yq11）的常染色质区域检测到一个精子发生位点（基因或基因复合体），基于总体结构重排将其定义为无精子症因子。负责不同精子发生缺陷的基因家族是“无精子症缺失”（DAZ）基因。

病例

一名34岁男性患有少精子症，对其外周血淋巴细胞进行G显带细胞遗传学分析，结果显示核型为46,X,inv(Y)(p11q11)。通过荧光原位杂交技术更精确地确定了染色体断点与DAZ基因之间的关系。我们发现DAZ基因有两个信号，比正常信号弱，一个在Y染色体短臂，另一个在长臂，这表明断点位于DAZ基因水平。