Dodé C, Weil D, Levilliers J, Crozet F, Chaïb H, Levi-Acobas F, Guilford P, Petit C
Unité de Génétique des Déficits Sensoriels, CNRS URA 1968, Institut Pasteur, Paris, France.
Genomics. 1998 Jan 1;47(1):125-30. doi: 10.1006/geno.1997.5081.
We report on the isolation and initial characterization of a human alpha-tubulin gene named TUBA2. This gene is located in the 13q11 region and has been considered a candidate gene for two nonsyndromic deafnesses, DFNB1 and DFNA3. The gene, with a minimum size of 6.5 kb, contains five exons and four introns starting at codon positions 1, 76, 125, and 352, one of which is inserted between the initiation methionine codon and the codon specifying the second amino acid, arginine 2. Neither rearrangement nor point mutation was found in the coding region of the gene in DFNB1- and DFNA3-affected patients. The gene was therefore unlikely to be responsible for either of these deafnesses. During the characterization of TUBA2, the gene encoding connexin 26 was proven to be responsible for both DFNB1 and DFNA3 (D. P. Kelsell et al., 1997, Nature 387: 80-83). However, the present data offer the possibility of testing the involvement of the TUBA2 gene in the Clouston hidrotic ectodermal dysplasia and the Kabuki syndrome, two genetic diseases that have recently been mapped to the 13q11 region.
我们报告了一个名为TUBA2的人类α-微管蛋白基因的分离及初步特征分析。该基因位于13q11区域，被认为是两种非综合征性耳聋DFNB1和DFNA3的候选基因。该基因最小长度为6.5 kb，包含五个外显子和四个内含子，起始密码子位置分别为1、76、125和352，其中一个插入在起始甲硫氨酸密码子和指定第二个氨基酸（精氨酸2）的密码子之间。在DFNB1和DFNA3患者中，该基因的编码区域未发现重排或点突变。因此，该基因不太可能是这两种耳聋的病因。在对TUBA2进行特征分析的过程中，编码连接蛋白26的基因被证明是DFNB1和DFNA3的病因（D. P. Kelsell等人，1997年，《自然》387: 80 - 83）。然而，目前的数据为检测TUBA2基因是否参与Clouston汗孔角化性外胚层发育不良和歌舞伎综合征这两种最近已定位到13q11区域的遗传疾病提供了可能性。
