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目的为了分析10例性腺发育不良患者细胞遗传学和分子遗传学特征。方法采用染色体核型分析和多重PCR技术,扩增Y染色体长臂AZF区域序列标签位点(STS)即AZFa区sY84、sY86,AZFb区sY127、sY134,AZFd区sY152,AZFc区sY254、sY255,Yq12 sY160(DYZ1)和短臂sY14(SRY)9个位点。结果1例染色体核型分析为46,X,del(X)(q13)的女性和1例45,X/46,X,min的女性,均未扩增出SRY及Y染色体AZFa、b、c区域位点。1例染色体核型为46,XX男性和1例46,X,-Y,+min的男性患者仅SRY基因扩增阳性,AZFa、b、c区域位点均缺失;2例染色体核型分析为46,XY女性和1例染色体核型分析47,XYY的女性患者不仅SRY基因扩增阳性,而且Y染色体AZFa、b、c区域多个位点扩增阳性。1例染色体核型为46,X,del(Y)(q11)的男性患者,Y染色体AZFb、c区域多个位点的缺失,1例染色体核型为46,X,del(Y)(q12),Yq12 sY160(DYZ1)缺失。结论染色体核型分析和Y染色体微缺失检测是辅助诊断性腺发育不良的重要方法。
Objective To analyze the cytogenetics and molecular genetics of 10 patients with gonadal dysplasia. Methods Chromosomal karyotyping and multiplex PCR were used to amplify the sequence tags (AZS) sY84, sY86, sY127, sY134, sY152, sY254, sY255, yq12 sY160 (DYZ1) and short arm sY14 (SRY). Results One female with chromosome X, del (X) (q13) and one female with 45, X / 46, X, min did not have SRY and Y chromosome AZFa, b, c Regional sites. Only one male with 46 karyotypes, one male with genotype XX, and one male with genotype 46, X, -Y, + min showed only positive amplification of SRY gene and no deletion of AZFa, b and c loci. The karyotypes of two cases were 46, XY female and 1 karyotype analysis of chromosome 47, XYY female patients not only positive for SRY gene amplification, and Y chromosome AZFa, b, c region multiple positive amplification. One case had karyotype of 46, X, del (Y) (q11) in male patients, deletion of multiple loci of AZFb and c region of Y chromosome, one chromosome was karyotype 46, X, del (Y) ), Yq12 sY160 (DYZ1) is deleted. Conclusion Chromosome karyotype analysis and Y chromosome microdeletion detection is an important method to diagnose gonadal dysplasia.