X连锁隐性少汗型外胚层发育不良：DNA探针连锁分析与基因定位
X-linked hypohidrotic ectodermal dysplasia: DNA probe linkage analysis and gene localization.
作者信息
Clarke A, Sarfarazi M, Thomas N S, Roberts K, Harper P S
出版信息
Hum Genet. 1987 Apr;75(4):378-80. doi: 10.1007/BF00284112.
PMID:2883107
Abstract
A linkage study of 24 families with hypohidrotic (anhidrotic) ectodermal dysplasia (HED) has been performed. The previously suggested linkage to DXYS1 has been confirmed, and linkage to probes DXS14 and DXS3 has been established. We suggest that the HED locus lies in the centromeric region between DXYS1 on the long arm and DXS14 on the short arm of the X chromosome, probably on proximal Xq.
摘要
对24个患有少汗型（无汗型）外胚层发育不良（HED）的家庭进行了连锁研究。先前提出的与DXYS1的连锁关系得到了证实，并且与探针DXS14和DXS3的连锁关系也已确立。我们认为HED基因座位于X染色体长臂上的DXYS1和短臂上的DXS14之间的着丝粒区域，可能位于近端Xq。
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