Salo P, Kääriäinen H, Page D C, de la Chapelle A
Department of Medical Genetics, University of Helsinki, Finland.
Hum Genet. 1995 Mar;95(3):283-6. doi: 10.1007/BF00225194.
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.
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。