DFNB1与地中海地区家族性非综合征性常染色体隐性神经感觉性耳聋的连锁关系。

Linkage of DFNB1 to non-syndromic neurosensory autosomal-recessive deafness in Mediterranean families.

作者信息

Gasparini P, Estivill X, Volpini V, Totaro A, Castellvi-Bel S, Govea N, Mila M, Della Monica M, Ventruto V, De Benedetto M, Stanziale P, Zelante L, Mansfield E S, Sandkuijl L, Surrey S, Fortina P

机构信息

Servizio di Genetica Medica, IRCCS Ospedale Casa Sollievo della Sofferenza, San Giovanni Rotondo, Foggia, Italy.

出版信息

Eur J Hum Genet. 1997 Mar-Apr;5(2):83-8.

PMID:9195157

Abstract

Recent studies show a susceptibility locus (DFNB1) responsible for non-syndromic neurosensory autosomal-recessive deafness (NSRD) mapping to the pericentromeric region of chromosome 13q. In order to better understand the frequency with which DFNB1 is the gene for deafness in our patient population and the role of DFNB1 in Caucasians, we performed a genetic linkage study with four microsatellite markers linked to DFNB1 in a total of 48 independent Mediterranean families, of which 30 and 18 were of Italian and Spanish descent, respectively. A maximum two-point lod score of 7.28 was found with marker D13S115 at a recombination frequency of theta 0.1. Significant lod scores were also obtained for D13S143, D13S292 and D13S175. Genetic heterogeneity was confirmed using the HOMOG program which indicated absence of linkage to DFNB1 in approximately 21% of the sample. This study clearly demonstrates that DFNB1 plays an important role in 79% of Mediterranean families with NSRD. Furthermore, results from multipoint analysis predict that the DFNB1 gene maps between markers D13S175 and D13S115 which are separated by approximately 14.2 cM.

摘要

最近的研究表明，一个与非综合征性神经感觉性常染色体隐性耳聋（NSRD）相关的易感基因座（DFNB1）定位于13号染色体长臂的着丝粒周围区域。为了更好地了解DFNB1在我们患者群体中作为致聋基因的频率以及DFNB1在白种人中的作用，我们对48个独立的地中海家庭进行了一项基因连锁研究，这些家庭与DFNB1相关的四个微卫星标记进行了连锁分析，其中30个和18个家庭分别具有意大利和西班牙血统。在重组频率为θ0.1时，标记D13S115的最大两点连锁值为7.28。D13S143、D13S292和D13S175也获得了显著的连锁值。使用HOMOG程序证实了基因异质性，该程序表明在大约21%的样本中不存在与DFNB1的连锁。这项研究清楚地表明，DFNB1在79%的患有NSRD的地中海家庭中起重要作用。此外，多点分析结果预测，DFNB1基因定位于标记D13S175和D13S115之间，它们之间的距离约为14.2厘摩。