HUMAN XX MALES WITH Y SINGLE-COPY DNA FRAGMENTS
HUMAN XX MALES WITH Y SINGLE-COPY DNA FRAGMENTS
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DOI：
10.1038/307172a0
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发表时间：
1984-01-01
期刊：
影响因子：
64.8
通讯作者：
WEISSENBACH, J
中科院分区：
文献类型：
--
作者：
GUELLAEN, G;CASANOVA, M;WEISSENBACH, J
在人类中，XX男性是最著名的性反转综合症的例子，大约在20,000到30,000个新生儿中，会出现一个XX男性1 - 4。这些个体的核型，就染色体的数目和结构而言，大多数是明显正常的，但与他们所显示的表现型性别是矛盾的。XX男性可能是由另一条染色体3 - 5突变引发的非Y相关机制，也可能是这些个体基因组中存在的一些细胞遗传学上无法检测到的Y染色体物质表达的结果。最近，一些人类y特异性单拷贝探针已被分离出来6,7。在这项研究中，我们使用了几种y染色体特异性探针，明确地证明了在大约46，xx名人类男性的基因组中存在y染色体物质。这些XX男性只携带人类Y染色体的一小部分。在本文报道的三个阳性病例中，发现了包容性重叠染色体片段的存在，这意味着这些患者具有遗传异质性。
In humans, XX maleness is the best known example of a sex reversal syndrome occurring with an incidence of one XX male among approximately 20,000 to 30,000 newborn boys1–4. The karyotypes of the majority of these individuals are apparently normal, with respect to the numbers and structure of the chromosomes, but is in contradiction with the phenotypic sex which they display. XX maleness may be either a non Y-related mechanism triggered by a mutation on another chromosome3–5or could be the result of the expression of some cytogenetically undetectable Y chromosome material present in the genome of such individuals. Recently, a number of human Y-specific single copy probes have been isolated6,7. In this study, using several of these Y-specific probes we definitively demonstrate the presence of Y-chromosomal material in the genome of some 46,XX human males. These XX males carry only a fraction of the human Y chromosome. In the three positive cases reported here, presence of inclusive overlapping chromosomal fragments has been detected, implying a genetic heterogeneity of these patients.