OBJECTIVE: To develop an allele-specific PCR (AS-PCR)/restriction fragment length polymorphism (RFLP) assay for @entity4188 gene haplotypes predisposing to primary @entity10064 (PCG). METHODS: Twenty Chinese PCG @entity1 and 20 healthy controls were recruited. Peripheral blood sample was subjected to direct sequencing for common single nucleotide polymorphisms (SNPs) of the @entity4188 gene. Based on the results, @entity4188 gene haplotypes were constructed by PCR-RFLP and AS-PCR combined with RFLP. RESULTS: Four SNPs loci were identified by sequencing, which included @entity69373 @entity9063 (S1 in exon 2), @entity69374 @entity29102 (S2 in exon 2), @entity27515 @entity6993 (S3 in exon 3) and @entity69375 @entity14552 (S4 in exon 3). The distribution of such loci showed different characteristics between the two groups. 50% of the PCG @entity1 had @entity69373 @entity9063 and @entity69374 @entity29102 , while 25% of PCG @entity1 had @entity27515 @entity6993 and @entity69375 @entity14552 . As for the controls, 25% had @entity69373 @entity9063 and @entity69374 @entity29102 , 10% had @entity27515 @entity6993 and @entity69375 @entity14552 . None of the SNP loci has presented alone. PCR-RFLP was carried out to confirm the results of SNPs typing, but could not confirm the linkage between the SNP loci. By contrast, AS-PCR combined with RFLP has achieved specific amplification for @entity69373 @entity9063 and thorough differentiation of @entity69376 polymorphism. Similar results have been obtained by the same method for @entity27515 @entity6993 and @entity69375 @entity14552 typing and linkage disequilibrium analysis. CONCLUSION: The AS-PCR/RFLP assay has successfully constructed the haplotypes of the @entity4188 gene. For its accuracy, efficiency and specificity, the method may be used for constructing haplotypes for @entity74 studies.

[Construction of XXXX gene haplotypes predisposing to primary @entity10064 through allele-specific PCR/restriction fragment length polymorphism analysis].

@entity1 :: ('9606', 'Species') :: ['patients'] @entity9063 :: ('c|SUB|G||C', 'DNAMutation') :: ['G>C'] @entity69375 :: ('rs1056837', 'SNP') :: ['rs1056837'] @entity4188 :: ('1545', 'Gene') :: ['CYP1B1'] @entity29102 :: ('c|SUB|T||G', 'DNAMutation') :: ['T>G', 'T/G'] @entity6993 :: ('c|SUB|C||G', 'DNAMutation') :: ['C/G', 'C>G'] @entity69373 :: ('rs10012', 'SNP') :: ['rs10012'] @entity69374 :: ('rs1056827', 'SNP') :: ['rs1056827'] @entity14552 :: ('c|SUB|T||C', 'DNAMutation') :: ['T>C'] @entity27515 :: ('rs1056836', 'SNP') :: ['rs1056836'] @entity69376 :: ('g|SUB|T|1056827|G', 'DNAMutation') :: ['1056827 T>G'] @entity74 :: ('MESH:D030342', 'Disease') :: ['hereditary disease'] @entity10064 :: ('MESH:C565547', 'Disease') :: ['congenital glaucoma']
@entity4188 :: (1545,Gene) :: ['CYP1B1']
