Genetic analysis of males from intracytoplasmic sperm injection couples

被引：34

作者：

Cruger, DG ^{[1
]}

Agerholm, I

Byriel, L

Fedder, J

Bruun-Petersen, G

机构：

[1] Vejle Hosp, Dept Clin Genet, DK-7100 Vejle, Denmark

[2] Braedstrup Hosp, Fertil Clin, Braedstrup, Denmark

来源：

CLINICAL GENETICS | 2003年 / 64卷 / 03期

关键词：

abnormal karyotype; CBAVD; cystic fibrosis; ICSI; infertility; Y-chromosome microdeletions;

D O I：

10.1034/j.1399-0004.2003.00128.x

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

A total of 392 men referred for intracytoplasmic sperm injection (ICSI) participated in genetic analysis. The control group consisted of 100 normal fertile males. Chromosome and DNA analyses were performed to investigate the frequency of Y-chromosome microdeletions and CFTR mutations (the controls underwent DNA analysis only). An abnormal karyotype was found in 4.6% of all males, but the frequency among men with azoospermia was higher, at 11.7%. Y-chromosome microdeletions were found only among men with azoospermia (6.5%) and men with extreme oligospermia (2%). Compound heterozygosity for CFTR mutations was found in men with azoospermia (3.9%) and congenital bilateral absence of vas deferens (CBAVD) only. We conclude that all couples referred for ICSI should be offered chromosome analysis. DNA analysis for Y-chromosome microdeletions should be reserved for men with azoospermia or extreme oligospermia (<1 x 10(6) spermatozoa). Analysis for CFTR mutations should be limited to those with obstructive azoospermia or those with a family history of cystic fibrosis.

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页码：198 / 203

页数：6

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