对一名具有46,XX/46,XY核型的真两性畸形患者的四配子嵌合体的分子生物学分析。
Molecular biologic analyses of tetragametic chimerism in a true hermaphrodite with 46,XX/46,XY.
作者信息
Uehara S, Nata M, Nagae M, Sagisaka K, Okamura K, Yajima A
机构信息
Department of Obstetrics and Gynecology, Tohoku University School of Medicine, Sendai, Japan.
出版信息
Fertil Steril. 1995 Jan;63(1):189-92. doi: 10.1016/s0015-0282(16)57317-8.
OBJECTIVE
To investigate the mechanism of the formation of a tetragametic chimera with true hermaphroditism (46,XX/46,XY).
DESIGN
Molecular biologic analyses.
SETTING
Outpatient clinic and laboratories of a university hospital.
SUBJECTS
A true hermaphrodite with 46,XX/46,XY and the parents. MAIN OUTCOME ANALYSIS: Restriction fragment length polymorphism (RFLP) of the pseudoautosomal region on sex chromosomes.
RESULTS
Whereas a normal diploid individual showed two bands, the true hermaphrodite showed four bands in the RFLP analyses. Evaluation of the molecular weights of the bands revealed two of them to be of maternal origin and the other two to be of paternal origin.
CONCLUSION
The two cell lineages composing the true hermaphrodite are heterogeneous because those originated from the fertilization of two genetically different maternal haploid cells by two different spermatozoa.
目的
研究具有真两性畸形（46,XX/46,XY）的四配子嵌合体的形成机制。
设计
分子生物学分析。
单位
大学医院门诊及实验室。
研究对象
一名46,XX/46,XY的真两性畸形患者及其父母。主要结局分析：性染色体假常染色体区域的限制性片段长度多态性（RFLP）。
结果
正常二倍体个体在RFLP分析中显示两条带，而该真两性畸形患者显示四条带。对条带分子量的评估表明，其中两条带来自母亲，另外两条带来自父亲。
结论
构成该真两性畸形患者的两个细胞谱系是异质的，因为它们源自两个不同的精子使两个基因不同的母亲单倍体细胞受精。
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