关于语前聋的遗传学
On the genetics of prelingual deafness.
作者信息
Majumder P P, Ramesh A, Chinnappan D
机构信息
Department of Biostatistics, University of Pittsburgh, PA 15261.
出版信息
Am J Hum Genet. 1989 Jan;44(1):86-99.
In view of the many discordant findings in previous studies regarding the genetics of prelingual deafness, family data (133 nuclear families and 25 pedigrees) were gathered from India. Analysis of these data has revealed that the defect is primarily genetic, which is in agreement with earlier findings. Segregation analysis was performed to compare various autosomal diallelic one-locus and multilocus models. Our analysis revealed that the most parsimonious model for prelingual deafness is that it is controlled by recessive genes at a pair of unlinked diallelic autosomal loci. Individuals are affected if and only if they are recessive homozygous at both loci. The likelihood of the present data under this two-locus multiple recessive homozygosis model is at least 10(8) times higher than that of the one-locus models that were examined in previous studies. This model is also the best-fitting model among other plausible two-locus models.
鉴于先前关于语前聋遗传学的许多研究结果不一致，我们从印度收集了家庭数据（133个核心家庭和25个家系）。对这些数据的分析表明，该缺陷主要是遗传性的，这与早期研究结果一致。进行了分离分析以比较各种常染色体双等位基因单基因座和多基因座模型。我们的分析表明，语前聋最简约的模型是它由一对不连锁的双等位基因常染色体基因座上的隐性基因控制。当且仅当个体在两个基因座上均为隐性纯合子时才会受到影响。在这个双基因座多重隐性纯合模型下，当前数据的似然性比先前研究中检验的单基因座模型至少高10(8)倍。该模型也是其他合理的双基因座模型中拟合度最好的模型。
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