Kere J, Grzeschik K H, Limon J, Gremaud M, Schlessinger D, de la Chapelle A
Department of Molecular Microbiology, Washington University School of Medicine, St. Louis, Missouri 63110.
Genomics. 1993 May;16(2):305-10. doi: 10.1006/geno.1993.1189.
Anhidrotic ectodermal dysplasia (EDA), an X-chromosomal recessive disorder, is expressed in a few females with chromosomal translocations involving bands Xq12-q13. Using available DNA markers from the region and somatic cell hybrids we mapped the X-chromosomal breakpoints in two such translocations. The breakpoints were further mapped within a yeast artificial chromosome contig constructed by chromosome walking techniques. Genomic DNA markers that map between the two translocation breakpoints were recovered representing putative portions of the EDA gene.
无汗性外胚层发育不良（EDA）是一种X染色体隐性疾病，在少数涉及Xq12-q13带的染色体易位女性中有所表现。利用该区域现有的DNA标记和体细胞杂种，我们绘制了两个此类易位中的X染色体断点图谱。这些断点在通过染色体步移技术构建的酵母人工染色体重叠群中进一步定位。回收了位于两个易位断点之间的基因组DNA标记，这些标记代表了EDA基因的推定部分。
