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Distributive characteristics of Ser49Gly and Gly389Arg genetic polymor-phisms of β_1-adrenoceptor in Chinese Han and Dai populations

【摘要】:正 Aim:Genetic polymorphisms causing Ser49Gly and Gly389Arg mutants of β_1-adrenoceptor may result in significant changes in the function of this receptor.The aim of the present study was to investigate the frequencies of the Ser49Glyand Gly389Arg mutant alleles in healthy Chinese populations and to investigatethe differences between 2 Chinese ethnic groups(Han and Dai populations)withrespect to the frequencies of these alleles.Methods:A total of 225 Han Chineseand 175 Dai Chinese unrelated healthy volunteers were recruited for this study.Genomic DNA was extracted from peripheral blood leukocytes by using a stan-dard manual chloroform-phenol extraction.Fragments spanning the 2 polymor-phisms were amplified by using polymerase chain reaction with template genomicDNA and relevant primers.The DNA products including the polymorphic lociwere subjected to restriction endonuclease digestion with Eco01091 and BcgI.Digested fragments were detected with an ultraviolet detector after electrophore-sis(100 V for approximately 1.5 h).Results:The frequencies of the Gly49 andArg389 alleles were,respectively,16.2% and 76.4% in the Han population and 14.6%and 75.7% in the Dai population.Conclusion:The polymorphisms causing theSer49Gly and Gly389Arg mutations of the β_1-adrenoceptor existed in both healthyHan and Dai Chinese populations.The frequencies of the Ser49Gly and Gly389Argmutant alleles were not significantly different in the Han and Dai populations.However,the frequency of the Gly389 variant seems to be significantly lower inthese 2 populations than in an African-American population.

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