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Y染色体长臂上身高决定因素的缺失定位

Deletion mapping of stature determinants on the long arm of the Y chromosome.

作者信息

Salo P, Kääriäinen H, Page D C, de la Chapelle A

机构信息

Department of Medical Genetics, University of Helsinki, Finland.

出版信息

Hum Genet. 1995 Mar;95(3):283-6. doi: 10.1007/BF00225194.

DOI:10.1007/BF00225194
PMID:7868119
Abstract

A gene contributing to human growth has previously been tentatively mapped to the long arm of the Y chromosome. In the present study, recently developed sequence-tagged site markers covering the entire Y chromosome were used to define deletion breakpoints in 15 males with partial deletions of Yq. By correlating the height of these individuals with their deletion breakpoints, we located a region whose presence or absence has a marked effect on stature. This critical region comprises the most proximal portion of the long arm, extending from marker sY78 in interval 4B to marker sY94 in interval 5G of the proximal long arm.

摘要

一个对人类生长有影响的基因先前已初步定位于Y染色体长臂。在本研究中,使用最近开发的覆盖整个Y染色体的序列标签位点标记来确定15名Yq部分缺失男性的缺失断点。通过将这些个体的身高与其缺失断点相关联,我们定位到了一个区域,该区域的存在与否对身高有显著影响。这个关键区域包括长臂的最近端部分,从近端长臂4B区间的sY78标记延伸到5G区间的sY94标记。

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No influence of parental origin of intact X chromosome and/or Y chromosome sequences on three-year height response to growth hormone therapy in Turner syndrome.完整的X染色体和/或Y染色体序列的亲本来源对特纳综合征患者生长激素治疗三年身高反应无影响。
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FISH deletion mapping defines a single location for the Y chromosome stature gene, GCY.荧光原位杂交缺失图谱确定了Y染色体身高基因GCY的单一位置。
J Med Genet. 2000 Aug;37(8):593-9. doi: 10.1136/jmg.37.8.593.
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Expression of RBM in the nuclei of human germ cells is dependent on a critical region of the Y chromosome long arm.RBM在人类生殖细胞核中的表达取决于Y染色体长臂的一个关键区域。
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A synopsis of the human Y chromosome.人类Y染色体概述。
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Yq deletion with short stature, abnormal male development, and schizoid character disorder.伴有身材矮小、男性发育异常和类精神分裂人格障碍的Yq缺失。
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A novel format for a growth chart.一种新型的生长图表格式。
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8
Deletion of the long arms of the Y chromosome with normal male development and intelligence.Y染色体长臂缺失但男性发育和智力正常。
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9
Analytic review: nature and origin of males with XX sex chromosomes.分析性综述:具有XX性染色体男性的本质与起源
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Probable long-arm deletion of Y chromosome in boy of short stature.
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