目的:从分子遗传学角度对1个非综合征母系遗传耳聋大家系的发病机制进行研究.方法:使用365对常染色体全基因组扫描标记(STRPs),应用DNA pooling方法对该家系进行全基因组扫描.结果:通过比较患者pool与患者亲属pool及对照pool的等位基因频率的差别,发现全基因组共45个位点患者pool中出现某一较高频率的等位基因,并通过统计学处理确定其差异,这些位点即为连锁分析的候选位点.结论:这些位点频率较高的等位基因可能与导致母系遗传性耳聋的相关基因连锁.

[1] Sheffield V C, Carmi R, Kwitek-Black A. Identification of a Bardet-Biedl syndrome locus on chromosome 3 and evaluation of an efficient approach to homozygosity mapping, 1994
[2] Wang C Y, Hawkins, Lee B, Ochoa B. Homozygosity and linkage disequilibrium mapping of the urofacial (Ochoa)syndrome gene to a 1-cM interval on chromosome 10q23.q24, 1997
[3] Parvari R, Hershkovitz E, Kanis A. Homozygosity and linkage-disequilibrium mapping of congential hypoparathyroidism growth and mental retardation and dysmorphism to a 1.cM interval on chromsome 1q42.43, 1998
[4] Bejjami B A, Lewis R A, Tomy K F. Mutation in CYP1B1,the gene for cytochrome P4501B1 are the predominant cause of primary congenital glaucoma in saudi Arabia, 1998
[5] Shaw S H, Carrasquilla M M, Kashuk C. Allele frequency distributions in pooled DNA samples:applications to mapping complex disease genes, 1998(2)
[6] Arbour N C, Zlotogora J, Konwlton R G. Homozygosity mapping of achromatopsia to chromosome 2 using DNA pooling. 1997(5). doi:10.1093/hmg/6.5.689
[7] Walder R Y, Shaw H, Brennan T M H. Familial hypomagnesemia maps to chromosome 9q,not to the X chomosome:genetic linkage mapping andanalysis of a balanced translocation breakpoint. 1997(9). doi:10.1093/hmg/6.9.1491
[8] Daniels J, Holmans P, Wiliams N. A simple method for analyzing microsatellite allele image patterns generated from DNA pools and its applications to association studies, 1998
[9] Stronswold K. Genetics of spoken language disorders, 1998(2)
[10] Sheffield V C, Kraiem Z, Beck J C. Pendred syndrome maps to chromosome 7q21-34 and is caused by an intrinsic defect in thyroid iodine organification. 1996(4). doi:10.1038/ng0496-424
[11] Scott D A, Carnii R, Elbedour K. An autosomal recessive nonsyndromic.hearing.loss locus identified by DNA pooling using two inbred Bedoiun Kindreds, 1996
[12] Sheffield V C, Pierpont M E, Nishimura D. Identification of a complex congenital heart defect susceptibility locus by using DNA pooling and shared segment analysis. 1997(1). doi:10.1093/hmg/6.1.117
[13] Prezant T R, Agapian J V, Bohlman M C. Mitochondrial ribosome mutation associated with both antibiotic-induced and non-syndromic deafness, 1993