一个Y特异性生长基因的染色体定位。

Ogata T, Tomita K, Hida A, Matsuo N, Nakahori Y, Nakagome Y

Department of Paediatrics, Keio University School of Medicine, Tokyo, Japan.

J Med Genet. 1995 Jul;32(7):572-5. doi: 10.1136/jmg.32.7.572.

Although a Y specific growth gene(s) has been postulated in the Yq11 region, the precise location has not been determined. To localise the growth gene(s), we correlated genotype with stature in 13 Japanese and four European non-mosaic adult male patients with a partial Yq deletion. Fourteen patients preserving the region between DYS11 and DYS246 did not have short stature (11 Japanese, 165-180 cm; three Europeans, 165-173 cm) whereas the remaining three patients with the region deleted had short stature (two Japanese, both 159 cm; one European, 157 cm). The results suggest that the region defined by DYS11 at interval 5C and by DYS246 at interval 5D may be the critical region for the Y specific growth gene(s).

尽管已假定在Yq11区域存在Y特异性生长基因，但确切位置尚未确定。为了定位该生长基因，我们对13名日本和4名欧洲非嵌合成年男性Yq部分缺失患者的基因型与身高进行了相关性分析。保留DYS11和DYS246之间区域的14名患者没有身材矮小（11名日本人，身高165 - 180厘米；3名欧洲人，身高165 - 173厘米），而其余3名该区域缺失的患者身材矮小（2名日本人，均为159厘米；1名欧洲人，157厘米）。结果表明，由5C区间的DYS11和5D区间的DYS246所界定的区域可能是Y特异性生长基因的关键区域。