Sequences variations in 5'-flanking region of ABO gene and correlation with ABO alleles in the indigenous Chinese.

Sequences variations in 5'-flanking region of ABO gene and correlation with ABO alleles in the indigenous Chinese. Research Abstract Details 

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Sequences variations in 5'-flanking region of ABO gene and correlation with ABO alleles in the indigenous Chinese. Abstract Text:

L Yan,F Zhu,Y Liu,X Xu,X Hong,

Background and Objectives 5'-flanking sequences of the ABO gene play important role in the regulation of gene expression, but polymorphism of 5'-flanking sequence of ABO gene is rarely known. Here, we further characterize the molecular genetic basis and ABO allele-related polymorphism of the 5'-untranslated regions (5'-UTR) of the human ABO gene. Materials and Methods Collecting blood samples from 72 blood donors in Hangzhou, China, we analysed sequences of exons 6 and 7 of ABO gene and amplified an enhanced segment of 43 bp repeats in the 5'-UTR. Subsequently, we selected 25 homozygotes [of genotypes A101/A101 (two), A102/A102 (seven), B101/B101 (seven) and O01/O01 (nine)] and five heterozygotes [A102/O01 (two), B101/O01 (two) and O01/O105 (one)] for sequencing 5 -kb amplicons spanning the 5'-UTR and partial exon 1 of the ABO gene. We sequenced the amplicons bidirectionally and, when pertinent, analysed selected haplotypes by cloning. Results As a result, we identified 11 new polymorphic sites (10 point mutations, one 8-bp deletion) in the 5'-UTR of the A102, B101 and O01 alleles of common ABO phenotypes. Five A102 alleles carry four tandem repeats of a 43-bp minisatellite unit that deviated from previous reports. Conclusion The results revealed the DNA polymorphisms in the 5'-UTRs correlated with the common ABO alleles. Elucidation of the diversity of the 5'-UTRs is an important supplement to existing methods for increasing our understanding of the molecular basis of the ABO blood group system.

Sequences variations in 5'-flanking region of ABO gene and correlation with ABO alleles in the indigenous Chinese. Publishing Authors By Initials

L Yan,F Zhu,Y Liu,X Xu,X Hong,

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Sequences variations in 5'-flanking region of ABO gene and correlation with ABO alleles in the indigenous Chinese. Journal Published:

PUBLICATION TYPE: Journal Article

Journal: Vox sanguinis

VOLUME: 94

Page Numbers: 227-33

Journal Abbreviation: Vox Sang.

ISSN: 0042-9007

DAY: 11

MONTH: 12

YEAR: 2007

Sequences variations in 5'-flanking region of ABO gene and correlation with ABO alleles in the indigenous Chinese. Information

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LANGUAGE: eng

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Grant and Affiliation Information for Sequences variations in 5'-flanking region of ABO gene and correlation with ABO alleles in the indigenous Chinese.

AFFILIATION: Institute of Transfusion Medicine, Blood Center of Zhejiang Province, Hangzhou, Zhejiang 310006, China, and Key Laboratory of Blood Safety Research, Ministry of Health, Hangzhou, Zhejiang 310006, China.

Country: England

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MEDLINETA: Vox Sang

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