Mustapha M, Azar S T, Moglabey Y B, Saouda M, Zeitoun G, Loiselet J, Slim R
Department of Biochemistry, American University of Beirut, Lebanon.
J Med Genet. 1998 Mar;35(3):202-4. doi: 10.1136/jmg.35.3.202.
Pendred syndrome is an autosomal recessive disease characterised by congenital sensorineural deafness and goitre. The gene responsible for Pendred syndrome has been mapped to chromosome 7q31 in a 5.5 centimorgan (cM) interval flanked by D7S501 and D7S523. This interval was recently refined a to 1.7 cM interval located between D7S501 and D7S692. In the present study, we report linkage analysis data on a large consanguineous family genotyped with eight microsatellite markers located between D7S501 and D7S523. Complete cosegregation with the disease locus was observed with the loci analysed, which further supports locus homogeneity for Pendred syndrome and close linkage to this region. Haplotype analysis placed the Pendred syndrome gene between D7S496 and D7S2425 in a 0.8 cM interval. This additional refinement of the Pendred syndrome region will facilitate the construction of a physical map of the region and will help the identification of candidate genes.
彭德莱德综合征是一种常染色体隐性疾病，其特征为先天性感音神经性耳聋和甲状腺肿。导致彭德莱德综合征的基因已被定位于7号染色体长臂31区，位于D7S501和D7S523两侧的一个5.5厘摩（cM）区间内。最近，该区间被精确定位到位于D7S501和D7S692之间的一个1.7 cM区间。在本研究中，我们报告了对一个大型近亲家族进行连锁分析的数据，该家族用位于D7S501和D7S523之间的8个微卫星标记进行了基因分型。在所分析的位点中观察到与疾病位点完全共分离，这进一步支持了彭德莱德综合征的位点同质性以及与该区域的紧密连锁。单倍型分析将彭德莱德综合征基因定位于D7S496和D7S2425之间一个0.8 cM的区间内。对彭德莱德综合征区域的这一进一步精确定位将有助于构建该区域的物理图谱，并有助于识别候选基因。
