SRY基因序列分析8例

SEQUENCE ANALYSIS OF SRY GENE OF EIGHT PATIENTS

为寻找性反转及生殖器发育不良患者的病因，对８例患者在染色体核型分析的基础上，利用ＰＣＲ扩增技术对患者的ＳＲＹ基因进行检测和序列分析。结果：８例患者的ＳＲＹ基因全部存在；ＤＮＡ序列分析发现１例４６，ＸＸ女性伴ＳＲＹ基因存在的患者在ＨＭＧ盒内有点突变，即ｃｏｄｏｎ１１２Ｇ→Ｃ。１例４６，ＸＹ女性性反转综合征患者有移码突变和点突变并存。为患者从分子基础上找到了病因，并为研究性反转及生殖器发育不良提供了科学的有价值的资料。

In order to find the reason of sex reversal and dysgenitalism,we analysed the SRY gene of eight patients using PCR amplification and DNA sequencing technique.The rusult revealed a point mutation occurred at condon 112 GAG→GAC in one patient of 46,XX female with SRY gene;both frameshift mutation and point mutation concurred in one patient of 46,XY female;the other six had normal SRY gene sequences.This has provided a valuable information for studying the mechanism of sex reversal and dysgenitalism.