Objective To investigate whether or not the intestinal fatty acid binding protein gene (FABP2) Ala54Thr variation is related to non insulin dependent diabetes mellitus (NIDDM), obesity, dyslipidemia and glucose sti...Objective To investigate whether or not the intestinal fatty acid binding protein gene (FABP2) Ala54Thr variation is related to non insulin dependent diabetes mellitus (NIDDM), obesity, dyslipidemia and glucose stimulated insulin secretion (GSIS) in Chinese.Methods The FABP2 Ala54Thr variation was detected by PCR/HhaI digestion in 231 Chinese subjects (116 with normal glucose tolerance (NGT), 54 with impaired glucose tolerance (IGT) and 61 with NIDDM). Plasma glucose, insulin and C peptide levels before and after 75 g glucose load as well as fasting lipid profile were determined.Results (1) The Ala54 and Thr54 allele frequencies in Chinese were 0.71 and 0.29 respectively; (2) The FABP2 Ala54Thr variation was neither associated with fasting and post challenged plasma glucose levels nor with NIDDM; (3) This variation was neither associated with fasting lipid profile nor with obesity; (4) The IGT subjects with genotype Thr54(+) (Thr54 homozygotes and heterozygotes) had lower fasting, 2 hour and total C peptide levels and smaller AUC representing lesser C peptide secretion after glucose challenge than those with genotype Thr54( ) (Ala54 homozygotes) (P= 0.04 , 0.03, 0.01 and 0.01 respectively). The serum insulin levels changed in the same tendency.Conclusions The glucose stimulated insulin secretion (GSIS) reserve of islet beta cells is more limited in subjects with FABP2 Thr54(+) genotype than in those with FABP2 Thr54(-) genotype. It suggests that FABP2 codon 54 variation might contribute to the insufficient insulin secretion in the development of NIDDM in Chinese.展开更多
Objectives To identify possible mutations in our previously cloned candidate gene for hereditary multiple exostoses type Ⅱ (EXT2) in affected members of EXT families so as to confirm that it is the disease causing ...Objectives To identify possible mutations in our previously cloned candidate gene for hereditary multiple exostoses type Ⅱ (EXT2) in affected members of EXT families so as to confirm that it is the disease causing gene. Methods The mutation was detected first by single strand conformational polymorphism(SSCP) of all coding exons of the candidate gene and then by sequencing analysis. Results After analyzing 37 patients from 20 Chinese EXT families by SSCP and DNA sequencing analysis, one 2 bp insertion mutation was identified in this candidate gene in affected members of an EXT family. This mutation resulted in the frameshift and generated a truncated gene product consisting of 105 amino acids. Conclusions The identification of the mutation in the candidate gene indicates that this novel gene is responsible for EXT2 (one of the disease causing gene of EXT).展开更多
文摘Objective To investigate whether or not the intestinal fatty acid binding protein gene (FABP2) Ala54Thr variation is related to non insulin dependent diabetes mellitus (NIDDM), obesity, dyslipidemia and glucose stimulated insulin secretion (GSIS) in Chinese.Methods The FABP2 Ala54Thr variation was detected by PCR/HhaI digestion in 231 Chinese subjects (116 with normal glucose tolerance (NGT), 54 with impaired glucose tolerance (IGT) and 61 with NIDDM). Plasma glucose, insulin and C peptide levels before and after 75 g glucose load as well as fasting lipid profile were determined.Results (1) The Ala54 and Thr54 allele frequencies in Chinese were 0.71 and 0.29 respectively; (2) The FABP2 Ala54Thr variation was neither associated with fasting and post challenged plasma glucose levels nor with NIDDM; (3) This variation was neither associated with fasting lipid profile nor with obesity; (4) The IGT subjects with genotype Thr54(+) (Thr54 homozygotes and heterozygotes) had lower fasting, 2 hour and total C peptide levels and smaller AUC representing lesser C peptide secretion after glucose challenge than those with genotype Thr54( ) (Ala54 homozygotes) (P= 0.04 , 0.03, 0.01 and 0.01 respectively). The serum insulin levels changed in the same tendency.Conclusions The glucose stimulated insulin secretion (GSIS) reserve of islet beta cells is more limited in subjects with FABP2 Thr54(+) genotype than in those with FABP2 Thr54(-) genotype. It suggests that FABP2 codon 54 variation might contribute to the insufficient insulin secretion in the development of NIDDM in Chinese.
文摘Objectives To identify possible mutations in our previously cloned candidate gene for hereditary multiple exostoses type Ⅱ (EXT2) in affected members of EXT families so as to confirm that it is the disease causing gene. Methods The mutation was detected first by single strand conformational polymorphism(SSCP) of all coding exons of the candidate gene and then by sequencing analysis. Results After analyzing 37 patients from 20 Chinese EXT families by SSCP and DNA sequencing analysis, one 2 bp insertion mutation was identified in this candidate gene in affected members of an EXT family. This mutation resulted in the frameshift and generated a truncated gene product consisting of 105 amino acids. Conclusions The identification of the mutation in the candidate gene indicates that this novel gene is responsible for EXT2 (one of the disease causing gene of EXT).
