Original Article

Distributive characteristics of Ser49Gly and Gly389Arg genetic polymorphisms of β1-adrenoceptor in Chinese Han and Dai populations

Zhao-qian Liu, Jie Liu, Zhi-hua Xiang, Min-yu Hu, Wei Mo, Lian-sheng Wang, Dong-sheng Ou-yang, Nan He, Dan Wang, Hong-hao Zhou

Abstract

Aim: Genetic polymorphisms causing Ser49Gly and Gly389Arg mutants of β1-
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 Ser49Gly
and Gly389Arg mutant alleles in healthy Chinese populations and to investigate
the differences between 2 Chinese ethnic groups (Han and Dai populations) with
respect to the frequencies of these alleles. Methods: A total of 225 Han Chinese
and 175 Dai Chinese unrelated healthy volunteers were recruited for this study.
Genomic DNA was extracted from peripheral blood leukocytes by using a standard
manual chloroform-phenol extraction. Fragments spanning the 2 polymorphisms
were amplified by using polymerase chain reaction with template genomic
DNA and relevant primers. The DNA products including the polymorphic loci
were subjected to restriction endonuclease digestion with Eco0109I and BcgI.
Digested fragments were detected with an ultraviolet detector after electrophoresis
(100 V for approximately 1.5 h). Results: The frequencies of the Gly49 and
Arg389 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 the
Ser49Gly and Gly389Arg mutations of the β1-adrenoceptor existed in both healthy
Han and Dai Chinese populations. The frequencies of the Ser49Gly and Gly389Arg
mutant alleles were not significantly different in the Han and Dai populations.
However, the frequency of the Gly389 variant seems to be significantly lower in
these 2 populations than in an African-American population.
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