Tsutsumi O, Iida T, Nakahori Y, Taketani Y
Department of Obstetrics and Gynecology, Faculty of Medicine, University of Tokyo, Japan.
Horm Res. 1996;46 Suppl 1:6-10. doi: 10.1159/000185168.
The sex-determining region of the Y chromosome (SRY) encodes a gene that has many of the properties expected to the testis-determining factor. XY gonadal dysgenesis is characterized by streak gonads in phenotypic females who lack the somatic abnormalities and short stature associated with Turner's syndrome. We have examined four patients with XY gonadal dysgenesis for the presence and absence of SRY and the DNA sequence of the gene. The results showing that one was negative for SRY and another had a mutation within the gene have confirmed the etiological role of SRY in XY gonadal dysgenesis. However, the other two patients with short stature had apparently normal SRY. DNA sequencing of the SRY gene showed 100% nucleotide sequence identity with the reported cloned sequence. Sex reversal in two of the present cases may be due to mutation at a locus other than SRY in the sex-determining pathway, a gene potentially involved in the determination of human sexual constitution.
Y染色体性别决定区（SRY）编码一种具有许多睾丸决定因子预期特性的基因。XY性腺发育不全的特征是表型为女性的条索状性腺，她们缺乏与特纳综合征相关的躯体异常和身材矮小。我们检查了4例XY性腺发育不全患者SRY的有无及该基因的DNA序列。结果显示，1例SRY阴性，另1例基因内有突变，这证实了SRY在XY性腺发育不全中的病因学作用。然而，另外两名身材矮小的患者SRY显然正常。SRY基因的DNA测序显示其核苷酸序列与已报道的克隆序列100%相同。本病例中的两例性反转可能是由于性别决定途径中SRY以外的位点发生突变所致，该基因可能参与人类性别的决定。
