[Study on distribution of single nucleotide polymorphism in 5'-regulatory region of beta(2)-adrenoceptor gene in hypertensives].
OBJECTIVE
To detect single nucleotide polymorphisms (SNP) existing in 5'-regulatory region of beta(2)-adrenoceptor (beta(2)-AR) gene and to investigate their associations with hypertension.


METHODS
beta(2)-AR gene was sequenced by fluorescent labeling automatic sequencing method in unrelated Chinese Han population distributed in Dabie Mountain in Anhui Province. Genotypes of the SNP were typed by PCR-RFLP method.


RESULTS
Two SNP of 1.3 kb long were identified at position 1023 and 654 respectively. They were both G-->A substitution. The frequency of genotype of the two SNP complied well with the Hardy-Weinberg equilibrium. The distribution of the SNP genotype AA, GA and GG at position 1023 in the severe hypertension group was significantly different from that in normal group (chi(2) = 9.53, df = 2, P < 0.01), AA frequency is significantly higher in the severe hypertension group than in the normal group (chi(2) = 9.21, df = 1, P < 0.01).


CONCLUSIONS
The SNP at locus 1023 of human beta(2)-AR gene is associated with severe hypertension in Chinese Han population.
Wu
H
H
Institute of Genetics, Fudan University, Shanghai 200433, China.
Xiao
J
J
Cai
G
G
D000368:Aged; D000483:Alleles; D001483:Base Sequence; D004247:DNA / Q000737:chemistry / Q000235:genetics; D004252:DNA Mutational Analysis; D005260:Female; D005787:Gene Frequency; D005838:Genotype; D006801:Humans; D006973:Hypertension / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D018343:Receptors, Adrenergic, beta-2 / Q000235:genetics*; D012045:Regulatory Sequences, Nucleic Acid / Q000235:genetics*
D018343:Receptors, Adrenergic, beta-2; D004247:DNA