两名无性腺发育异常的46,XX男性的遗传学特征分析。
Genetic characterization of two 46,XX males without gonadal ambiguities.
作者信息
Minor Agata, Mohammed Fawziah, Farouk Alla, Hatakeyama Chiho, Johnson Karynn, Chow Victor, Ma Sai
机构信息
Department of Obstetrics and Gynaecology, University of British Columbia, Vancouver, BC, Canada.
出版信息
J Assist Reprod Genet. 2008 Nov-Dec;25(11-12):547-52. doi: 10.1007/s10815-008-9265-7. Epub 2008 Oct 30.
PURPOSE
To evaluate hypotheses which explain phenotypic variability in sex determining region Y positive 46,XX males. We investigate two 46,XX males without gonadal ambiguities.
METHODS
Cytogenetic and molecular analyses were used to identify the presence of Y chromosome material and to map the translocation breakpoint. Finally, the pattern of X chromosome inactivation was studied using the methylation assay at the androgen receptor locus.
RESULTS
The presence of Y chromosome material, including the sex determining region Y gene, was demonstrated in both men. However, the amount of translocated Y chromosome material differed between the patients. Different X chromosome inactivation patterns were found in the patients; random in one patient and non-random in the other.
CONCLUSIONS
We found a lack of association between phenotype and X chromosome inactivation pattern. Our cytogenetic and molecular analyses show support for the position effect hypothesis explaining the phenotypic variability in XX males.
目的
评估解释Y染色体性别决定区阳性的46,XX男性表型变异的假说。我们研究了两名无性腺模糊的46,XX男性。
方法
采用细胞遗传学和分子分析来确定Y染色体物质的存在并定位易位断点。最后，使用雄激素受体基因座的甲基化检测研究X染色体失活模式。
结果
两名男性均证实存在Y染色体物质，包括Y染色体性别决定区基因。然而，患者之间易位的Y染色体物质数量不同。在患者中发现了不同的X染色体失活模式；一名患者为随机失活，另一名患者为非随机失活。
结论
我们发现表型与X染色体失活模式之间缺乏关联。我们的细胞遗传学和分子分析支持位置效应假说，该假说解释了XX男性的表型变异。
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