Abstract:
:In this study, we systematically screened the polymorphisms of the whole CYP2D6 gene in the populations of four different geographical locations in China, namely, Shanghai, Shantou, Shenyang, and Xi'an, using a sample of 100 subjects from each population. Forty-eight different polymorphisms were detected as well as 12 novel ones. One novel nonsynonymous SNP was detected, and one novel intronic SNP was revealed that might inactivate a cryptic donor site 392 nucleotides downstream of the exon 6 natural donor site. In addition, the frequencies of some polymorphisms and alleles demonstrated significant differences among the four populations. Linkage disequilibrium analysis and tag SNP selection were performed separately for each population. Haplotypes were analyzed within the selected tag SNPs. Tag SNP selection and haplotype distributions showed differences across the four populations. This is the first large-scale study to analyze polymorphisms systematically across the whole CYP2D6 gene in the Chinese Han population.
journal_name
Genomicsjournal_title
Genomicsauthors
Qin S,Shen L,Zhang A,Xie J,Shen W,Chen L,Tang J,Xiong Y,Yang L,Shi Y,Feng G,He L,Xing Qdoi
10.1016/j.ygeno.2008.05.004subject
Has Abstractpub_date
2008-09-01 00:00:00pages
152-8issue
3eissn
0888-7543issn
1089-8646pii
S0888-7543(08)00099-2journal_volume
92pub_type
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