Bernatowicz L F, Li X M, Carrozzo R, Ballabio A, Mohandas T, Yen P H, Shapiro L J
Department of Pediatrics, UCLA School of Medicine, Harbor-UCLA Medical Center, Torrance 90509.
Genomics. 1992 Jul;13(3):892-3. doi: 10.1016/0888-7543(92)90179-v.
The majority of patients with steroid sulfatase deficiency have a deletion of the entire STS gene located on the distal short arm of the human X chromosome; however, two patients with partial gene deletions have been identified. We now report the sequences at the breakpoints of a deletion of the 3' end of the STS gene. The deletion starts within intron 7 of the gene and extends over 150 kb downstream toward the centromere. Analysis of sequences flanking the deletion breakpoints revealed 3 bp of homology. The 3' flanking sequence provides a new probe for isolation of YAC clones and for studying patients with deletions in this region of the X chromosome.
大多数类固醇硫酸酯酶缺乏症患者存在位于人类X染色体短臂远端的整个STS基因缺失；然而，已鉴定出两名部分基因缺失的患者。我们现在报告STS基因3'端缺失断点处的序列。该缺失始于基因的内含子7内，并向着丝粒下游延伸超过150 kb。对缺失断点侧翼序列的分析揭示了3个碱基对的同源性。3'侧翼序列为分离酵母人工染色体（YAC）克隆和研究X染色体该区域缺失的患者提供了一种新探针。
