OBJECTIVETo study the relationship between CYP1A1 genetic polymorphism and intrahepatic cholestasis of pregnancy (ICP) in Chengdu of China.

METHODSMspI and Ile/Val genotypes of CYP1A1 gene were detected with polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) and allele-specific amplification-PCR (ASA-PCR) in a case-control study, including 100 cases of ICP and 100 controls.

RESULTSThere was no significant correlation between MspI polymorphism and ICP susceptibility (P>0.05). However, the Ile/Val+Val/Val genotypes of CYP1A1 significantly increased the risk of ICP (P=0.047, OR=1.768).

CONCLUSIONThe Ile/Val polymorphism in exon 7 of CYP1A1 may be associated with the susceptibility of ICP in Chengdu. The MspI polymorphism of CYP1A1 is not associated with the risk of ICP in Chengdu.

Case-Control Studies ; Cholestasis, Intrahepatic ; genetics ; Cytochrome P-450 CYP1A1 ; genetics ; Female ; Gene Frequency ; Genetic Predisposition to Disease ; Humans ; Polymorphism, Genetic ; Pregnancy ; Pregnancy Complications ; genetics

OBJECTIVE: To analyze the RHD genotype of a blood donor with Del phenotype in Yunnan. METHODS: Rh serological phenotype was identified. RHD gene was detected by PCR-SSP typing, and its 10 exons were sequenced. Exon 9 was amplified for sequencing and analysis. RHD zygosity was detected. RESULTS: The Rh phenotype of this specimen was CcD^elee. Genomic DNA exhibited a 1 003 bp deletion spanning from intron 8, across exon 9 into intron 9. The deletion breakpoints occurred between two 7-bp short tandem repeat sequences. There was no variation in the sequences of the remaining exons. The Rh hybridization box test showed that there was one RHD negative allele. CONCLUSION This specimen is Del type caused by deletion of RHD exon 9.
Humans ; Blood Donors ; Rh-Hr Blood-Group System/genetics* ; China ; Phenotype ; Exons ; Genotype ; Alleles