ABSTRACT
The poliovirus receptor related-1 (PVRL1) gene encodes nectin-1, a cell-cell adhesion molecule (OMIM #600644), and is mutated in the cleft lip with or without cleft palate/ectodermal dysplasia-1 syndrome (CLPED1, OMIM #225000). In addition, PVRL1 mutations have been associated with nonsyndromic cleft lip with or without a cleft palate (NSCL/P) in studies of multiethnic samples. To investigate the possible involvement of this gene in southern Han Chinese NSCL/P patients, we performed (i) a case-control association study, and (ii) a resequencing study. A set of 470 patients with NSCL/P and 693 controls were recruited, and a total of 45 tagging single-nucleotide polymorphisms (SNPs) were genotyped by matrix-assisted laser desorption/ionization time-of-flight mass spectrometry. In the resequencing study, the coding regions of the PVRL1 α isoform were direct sequenced in 45 trios from multiply affected families. One (rs7128327) of the 45 tested SNPs showed a trend toward statistical significance in the genotypic-level chi-square test (p = 0.009567). However, this result did not withstand correction for multiple testing. Likewise, sliding window haplotype analyses consisting of two, three, or four SNPs failed to detect any positive association. Resequencing analysis also failed to identify any novel rare sequence variants. In conclusion, the present study provided no support for the hypothesis that common or rare variants in PVRL1 play a significant role in NSCL/P development in the southern Han Chinese population. This is the first study that has used tagging SNPs covering all the coding and noncoding regions to search for common NSCL/P-associated mutations of PVRL1.
Subject(s)
Asian People/ethnology , Cell Adhesion Molecules/genetics , Cleft Lip/complications , Cleft Lip/genetics , Cleft Palate/complications , Ethnicity/genetics , Polymorphism, Single Nucleotide , Adolescent , Adult , Asian People/genetics , Child , Child, Preschool , Cleft Lip/ethnology , Female , Humans , Infant , Introns/genetics , Male , Middle Aged , Mutation/genetics , Nectins , Promoter Regions, Genetic/genetics , Young AdultABSTRACT
OBJECTIVE: To explore mother-to-infant transmission of hepatitis C virus (HCV) and hepatitis G virus (HGV) co-infection and the influence factors. METHODS: Antihepatitis C virus (anti-HCV) and anti-hepatitis G virus (anti-HGV) antibodies were detected by third generation enzyme linked immunosorbent assay (ELISA). HCV RNA and HGV RNA were detected by fluorogenic quantitative-PCR (FQ-PCR). RESULTS: Totally 4506 common pregnant women were tested positive of serum anti-HCV. In these women, 878 were detected of serum anti-HGV, and 10 of them were found with both HCV RNA and HGV RNA positivities. In their 11 infants, two were positive for HCV RNA, and two were positive for HGV RNA. In these 4 infected infants, three were delivered by birth canal, one was delivered by cesarean section. All four were fed by breast-feeding. Three mother's ALTs were abnormally high before delivery. CONCLUSIONS: Hepatitis C and G virus co-infection does not increase the rate of mother-to-infant transmission. Birth canal delivery, breast-feeding and high alanine aminotransferase before delivery are high risk factors for mother-to-infant transmission of HCV and HGV co-infection.