Objective To investigate the expression of FoxO1 gene in idiopathic congenital talipes equinovarus(ICTEV) in Xinjiang Uigur and its correlastion with deformity degree of ICTEV.Methods The FoxO1 protein expression level of foot muscle tissues in 51 Uigur children cases of ICTEV and 25 Uigur normal children were detected by Western blot,the relative expression level of FoxO1 mRNA in different deformity degrees of ICTEV was detected by using real time fluorescence quantitative PCR.Results The Western Blot detection results showed that the expression level of FoxO1 protein in ICTEV children patients was (0.52 ± 0.03),which was lower than(1.61 ± 0.15) in normal children,the difference was statistically significant (P =0.017).The real time fluorescence quantitative PCR detection showed that the relative expression level of FoxO1 mRNA in the Dimeglio type Ⅱ,Ⅲ and Ⅳ were 1.02±0.24,0.67±0.15 and 0.24±0.19 respectively.There was negative correlation between the deformity degree of ICTEV and FoxO1 mRNA relative expression level.Conclusion The transcription level of FoxO1 gene is gradually decreased with the deformity degree aggravation of ICTEV,suggesting that the FoxO1 gene may involve in the whole onset process of Uigur ICTEV.

OBJECTIVETo delineate serological features and genetic basis for a rare p phenotype of P1Pk blood group system found in a Chinese individual.

METHODSSerological assaying was carried out for a proband with unexpected antibody found in his serum using specific antibodies and panel cells. Coding regions and flanking introns of α 1,4-galactosyltransferase gene (A4GALT) associated with the p phenotype were screened with polymerase chain reaction and DNA sequencing.

RESULTSA rare p phenotype of the P1Pk blood group system has been identified with red blood cells from the proband, whose serum contained anti-Tja antibody which can agglutinate and hemolyze with other common red blood cells. Other members of the proband's family were all normal with P1 or P2 phenotype. DNA sequencing has identified in the proband a homozygous 26 bp deletion at position 972 to 997 of the A4GALT gene. The deletion has caused a shift of the reading frame, resulting in a variant polypeptide chain with additional 83 amino acid residues compared with the wild-type protein. Other family members were either heterozygous for above deletion or non-deleted.

CONCLUSIONA 26 bp deletion at position 972 to 997 of the A4GALT gene has been identified in a Chinese individual with p phenotype.

ABO Blood-Group System ; genetics ; Alleles ; Base Sequence ; Galactosyltransferases ; genetics ; Genetic Association Studies ; Genotype ; Humans ; Male ; Molecular Sequence Data ; Pedigree ; Phenotype ; Sequence Deletion