肾上腺素受体基因单倍型的确定及分布估计.rar

17页2.1万余字，包括完整毕业论文及答辩ppt


摘要：对哮喘病进行case-conctrol study的第一步就是要确定个体的单倍型。Reihsaus假设异常的ß2AR基因与哮喘的生理研究密切有关。ß2AR基因在染色体5q31－32上。ß2AR基因的编码区中没有内含子。人类的ß2AR基因上有多个单核苷酸多态性位点（single-nucleotide polymorphisms ,SNPs）,单个的SNP信息没有任何预兆性的价值，而一条染色体上的多个SNP位点经组合后得到的单倍型（haplotype）信息却不清楚。利用SNP信息确定个体单倍型一般有三种算法：Clark算法，EM算法和Phase算法。经分析13个SNP位点的213种（＝8192）理论组合，我确定了12种单倍型，并估计了其分布情况。

关键词：肾上腺素受体. 单倍型. SNP.算法




Haplotype reconstruction and its distribution of ß2-adrenergic receptor gene

Abstract:
The first step for proceeding the research on asthma disease “case-control study” is to identify the haolotype. Abnormality of the ß2-adrenergic receptor gene (ß2AR) has been hypothesized to be involved in the physiology of asthma (Reihsaus et al.1993). The receptor is encolded by an gene on chromosome 5q31-32. The gene encoding ß2- adrenergic receptor (ß2AR) is devoid of introns within its coding region The human ß2-adrenergic receptor gene has multiple single-nucleotide polymorphisms (SNPs),but single SNP informations hasn`t any predictive value,and the relevance of chromosomally phased SNPs (haplotypes) is not known.. Three popular algorithms, Clark`s parsimony algorithm, EM algorithm and Phase algorithm, are used to obtain haplotype from SNP information. Thirteen SNPs were found organized into 12 haplotypes out of the theoretically possible 8192 combinations.

Key word: ß2- adrenergic receptor, haplotype, SNP, algoritm.
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