17頁2.1萬余字，包括完整畢業(yè)論文及答辯ppt


摘要：對哮喘病進(jìn)行case-conctrol study的第一步就是要確定個(gè)體的單倍型。Reihsaus假設(shè)異常的ß2AR基因與哮喘的生理研究密切有關(guān)。ß2AR基因在染色體5q31－32上。ß2AR基因的編碼區(qū)中沒有內(nèi)含子。人類的ß2AR基因上有多個(gè)單核苷酸多態(tài)性位點(diǎn)（single-nucleotide polymorphisms ,SNPs）,單個(gè)的SNP信息沒有任何預(yù)兆性的價(jià)值，而一條染色體上的多個(gè)SNP位點(diǎn)經(jīng)組合后得到的單倍型（haplotype）信息卻不清楚。利用SNP信息確定個(gè)體單倍型一般有三種算法：Clark算法，EM算法和Phase算法。經(jīng)分析13個(gè)SNP位點(diǎn)的213種（＝8192）理論組合，我確定了12種單倍型，并估計(jì)了其分布情況。

關(guān)鍵詞：腎上腺素受體. 單倍型. 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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