Wirth J, Wagner T, Meyer J, Pfeiffer R A, Tietze H U, Schempp W, Scherer G
Institut für Humangenetik und Anthropologie der Universität, Freiburg, Germany.
Hum Genet. 1996 Feb;97(2):186-93. doi: 10.1007/BF02265263.
Campomelic dysplasia (CMPD1) and autosomal XY sex reversal (SRA1) are caused by mutations in the SRY-related gene SOX9 on 17q. Unexpectedly, the 17q breakpoints in four CMPD1 translocation cases previously analyzed by us and others map 50 kb or more from SOX9. Here, we present clinical, cytogenetic, and molecular data from a new CMPD1/SRA1 patient with t(6;17)(q14;q24). Fluorescence in situ hybridization has shown that the 17q breakpoint in this case maps to the same region as the breakpoints in the other translocation cases, at least 130 kb from SOX9. Likewise, the breakpoints in two of the previously described cases also map more than 130 kb and, as shown by pulsed field gel electrophoresis analysis, at most 400 kb or 690 kb from SOX9. By using a SOX9 coding sequence polymorphism, expression of both SOX9 alleles has been demonstrated by the reverse transcriptase polymerase chain reaction in lymphoblastoid cells from one of the translocation cases.
弯肢侏儒症（CMPD1）和常染色体XY性反转（SRA1）是由17号染色体长臂上与SRY相关的SOX9基因突变引起的。出乎意料的是，我们和其他人之前分析的4例CMPD1易位病例中的17号染色体长臂断点距离SOX9基因50 kb或更远。在此，我们展示了一名患有t(6;17)(q14;q24)的新CMPD1/SRA1患者的临床、细胞遗传学和分子数据。荧光原位杂交显示，该病例中的17号染色体长臂断点与其他易位病例中的断点位于同一区域，距离SOX9基因至少130 kb。同样，之前描述的2例病例中的断点距离SOX9基因也超过130 kb，脉冲场凝胶电泳分析显示，距离SOX9基因最多400 kb或690 kb。通过使用SOX9编码序列多态性，逆转录聚合酶链反应已在其中1例易位病例的淋巴母细胞中证实了SOX9两个等位基因的表达。
