人类畸形精子与常染色体异常

AUTOSOMAL ANOMALIES OF MALFORMED SPERMATOZOA IN HUMAN

目的 :探讨精子形态与精子常染色体异常的关系 ,为胞质内精子显微注射 (ICSI)时的精子选择原则提供实验依据。方法 :应用荧光原位杂交 (FISH)技术对 1例罕见的大头多尾畸形精子进行了 13和 2 1号染色体整倍体检查。结果 :发现精子 13和 2 1号染色体的非整倍体率远高于同类研究 ,分别达 5 1.5 9%和 6 5 .15 % ;多体的组成比相近 ,且与多尾有大致的平行关系 ;2 1和性染色体有较 13号更高的非整倍体率。结论 :尽管体细胞染色体正常 ,畸形精子仍可伴有严重的染色体数目异常。

Objective:To investigate the relationship between sperum anomalies and chromosomal aberrance and to provide experimental base for sperum selection in intracytoplasmic sperum injection(ICSI).Methods:FISH(fluorescence in situ hybridization) with chromosomes 13-,21-specific probes were performed to detect aneuploidy rate in a rare case of macrocephalous and multitailed sperums.Results:The aneuploiy rate of chromosome 13 and 21 in the sperms reached 51.59% and 65.15% resepctively,which was much higher than other similar reports.The rate of polysomia is near and proportion to that of polytail.The aneuploidy rate of 21 and sex chromosomes are higher than that of chromosome 13.Conclusions:Even thouth chromosomes in somatic cells are normal,severe numerical chromosomal aberrances may exist in amorphorous spermatozoa,which suggests a relationship to morphological changes.