0.05)through one-way ANOVA.Conclusion Maybe there is no association with E237G gene mutation between asthma and atopy.

Objective To study the relationship between the variation of the 20 exon of leptin receptor (LEPR) and lipid metabolism of the children with obesity. Methods Polymerase chain reaction-restricted fragments length polymorphism (PCR-RFLP) and polyacrylamide gel electrophoresis were used to analyze the variation of the 20 exon of the LEPR gene of the obesity group (120 obese children) and the control group (120 healthy children). Their serum triglyceride (TG), total cholesterol (TC), high density lipoprotein cholesterol (HDL-C), height, weight measured and the body mass index (BMI), fat percent (%fat) were calculated. Results 3 genotypes of the 20 exon of LEPR gene has been detected. Compared with the control group, the frequency of the gene variation at 3057 nucleotide G→A transversion is higher (P<0.05).The concentration of the serum TG, the level of BMI and %fat of the obese children with A/A genotype were higher than that with the G/G genotype (P<0.01),but the level of the serum HDL was lower (P<0.01).To the children with A/G genotype, only their TG level in serum are higher than that with the G/G genotype (P<0.05). Conclusion There is polymorphism at 20 exon LEPR gene in children with obesity, which may affect the lipid metabolism and the fat distribution. The obese children with A/A genotype should pay more attention to their diet to avoid some diseases followed obesity.

OBJECTIVETo assess the practicality of rapid prenatal screening for Down syndrome (DS) by polymerase chain reaction-short tandem repeat (PCR-STR) method, and to determine the genotypes of 7 STR loci in ethnic Chinese Han from Weifang region.

METHODSSeven STR markers (D21S11, D21S1411, D21S1412, D21S1413, D21S1414, D21S1432 and D21S2039) from chromosome 21q22.1-22.2 region were selected. Amniotic samples from 978 high-risk pregnancies and peripheral blood samples from 82 patients suspected with DS were tested with PCR-STR. And the results were verified with G-banding analysis.

RESULTS(1) All of the 1060 samples were successfully tested by PCR-STR. For normal individuals, the patterns obtained by PCR-STR were two bands with 1:1 area ratio or a single band. For DS cases, by contrast, the patterns revealed either three bands with area ratio of 1:1:1 for two STR loci, or three bands with area ratio of 1:1:1 for one STR loci and two bands with 2:1 or 1:2 area ratio for two STR loci. Based on analysis of the 7 STR markers, 14 amniotic fluid samples and 26 peripheral blood samples were regarded as DS positive. (2) For the 978 amniotic fluid samples, cytogenetic analysis was successful in 961 (98.3%), among which 44 had an abnormal karyotype. These included 14 trisomy 21 (12 standard type, 1 mosaicism and 1 translocation). 17 cases which failed amniocytic culture were normal upon fetal blood karyotyping. (3) Cytogenetic analysis was successful in all of the 82 peripheral blood samples, and has identified 30 (36.6%) abnormal karyotypes, among which 26 were trisomy 21 (including 4 with translocation form). (4) For DS positive cases, STR 1-4 showed three bands with area ratio of 1:1:1, or there were 2-4 loci with two bands with an area ratio of 2:1 or 1:2. All of the DS cases detected by PCR-STR were confirmed by karyotyping. (5) All of the 7 selected loci were informative, with their degrees of heterozygosity ranging between 0.624 and 0.812. D21S2039 and D21S1412 had the highest heterozygosities (> 0.80), D21S1411 and D21S1432 had the lowest (< 0.70). D21S11 and D21S2039 showed the highest rate (≥ 40%) of three bands with area ratio 1:1:1. However, D21S1411, D21S1432 and D21S1413 markers had the highest rate of homozygosity (≥ 30%).

CONCLUSIONPCR-STR assay may provide an effective alternative for rapid prenatal DS screening. The 7 selected STR markers are highly informative. The result has featured good accuracy and reliability.

Adult ; Down Syndrome ; diagnosis ; genetics ; Female ; Genotype ; Humans ; Karyotyping ; Microsatellite Repeats ; Polymerase Chain Reaction ; Pregnancy ; Prenatal Diagnosis ; methods

OBJECTIVETo assess whether the plasminogen activator inhibitor-1 (PAI-1) gene 4G/5G polymorphism is associated with coronary heart disease (CHD) in Chinese patients.

METHODSPAI-1 gene 4G /5G polymorphism was analyzed in normal group (121 individuals) and CHD group (126 cases) by a combination of polymerase chain reaction-restriction fragment length polymorphism(PCR-RFLP).

RESULTSThe 4G allele and 4G/4G genotype frequencies of PAI-1 gene (0.60 and 0.397) for CHD patients were higher than those (0.48 and 0.190) for healthy controls(chi-square=7.63 P<0.01; chi-square=12.67, P<0.01). The odds ratios(OR) for CHD in subjects with the 5G/5G (and 4G/5G) genotypes were 2.54 (95% CI 1.22-5.27, P<0.05) and 1.28(95% CI 1.45-2.38, P>0.05), respectively.

CONCLUSIONThese results suggest that the PAI-1 4G/4G genotype is associated with an increased risk for CHD in Chinese patients. The subjects with the 4G/4G genotype had a higher prevalence of CHD, compared to those with the 5G/5G PAI-1 genotype.

Adult ; Aged ; Aged, 80 and over ; Asian Continental Ancestry Group ; genetics ; Coronary Disease ; genetics ; Female ; Gene Frequency ; Humans ; Male ; Middle Aged ; Plasminogen Activator Inhibitor 1 ; genetics ; Polymorphism, Genetic