摘要
目的应用FISH和PCR方法对7例性发育异常患者进行明确的遗传学诊断，分析患者性发育异常产生的原因。方法采用CEPX-Yq21双色探针及SRY特异探针进行原位杂交，分析患者X、Y染色体及SRY基因的分布情况；PCR的方法检测Y染色体短臂SRY、ZFY基因和Y染色体长臂AZF因子，确定Y染色体的完整性。结果7例患者中，有5例社会性别为男性：染色体核型为2例46，XX，2例嵌合型46，XX／46，XY；46，XX／46，XY／47，XXY、1例45，X；2例社会性别为女性：1例46，XY，SRY基因阴性；1例46，XX，SRY阴性、ZFY基因阳性。46，XX男性患者中1例SRY基因位于Xp，1例为SRY阴性；嵌合型男性患者中1例AZF多个位点缺失，另1例AZF无位点缺失；45，X男性患者为SRY阳性。结论性染色体畸变是引起性发育异常的重要原因之一，Y染色体在性别分化中起睾丸决定作用，SRY基因是性别决定的主导基因，但不是决定全部男性化的惟一因素。
Objective To diagnose seven patients with sex development abnormity exactly by fluorescence in situ hybridization （ FISH ） and polymerase chain reaction （ PCR ）, and analyze the reasons for patients with sex development abnormity. Methods We analyze distribution of X chromosome,Y chromosome and SRY gene were analyzed by FISH with fluorescence-labeled Chromosome X and Yq21 CCEPX-Yq21, dual probes and SRY special probe. PCR was used for the determination of the intactness of Y chromosome, SRY gene,ZFY gene and azoospermia factor（AZF） in long arm of Y chromosome （Yq） were tested by PCR. Results FISH and PCR analysis revealed that there were four 46, XX males, one 45, X male, one 46, XX and one 46, XX female in seven patients. In five males, two with 46, XX, one with 45, X and two with 46, XX/46, XX and one 46, XX female in seven patients. In five males, two with 46, XX, one with 45, X and two with 46, XX/46, XX ;46 ,XX/46, XY/47, XXY mosaicisms. We also found that the SRY gene in one 46, XX male translocated from Yp to Xp and SRY gene was negative in other 46, XX male. AZF factor microdeletion was found in 1 mosaic patients. SRY gene was positive in 45/X male patient. Conclusion Y chromosome has a testisdetermining function in sex differentiation. SRY gene is the chief sex-detemining gene but not unique factor for determination of holandric phenotype.
出处
《国际遗传学杂志》
CAS
2007年第5期321-324,共4页
International Journal of Genetics
基金
天津市教委科学基金（20040117）
关键词
荧光原位杂交
SRY基因
性发育异常
AZF因子
Fluorescence in situ hybridization （FISH）
SRY gene
Sex development abnormity
Azoospermia factor（AZF）
