A Study on the Association Between Siglec-1 Gene Polymorphism and Susceptibility in Patients with Chronic Obstructive Pulmonary Disease in Luohe Area

Objective:To analyze the association between Siglec-1 gene polymorphism and susceptibility to chronic obstructive pulmonary disease(COPD)in the population of the Luohe area.Methods:A case-control study(150 COPD patients and 150 healthy controls)was conducted to analyze the Siglec-1 allele in two groups of individuals using single nucleotide polymorphism(SNP)high-throughput detection technology,and the frequencies of each allele were compared.Results:The frequency of rs611847 heterozygous A/G genotype in COPD patients was significantly lower in females than in healthy controls(OR=0.282,95%CI=0.085-0.938,P=0.039);among smokers,the frequency of rs3859664 and rs6084444 genotypes in COPD patients was significantly higher than that in the healthy control group(OR=2.028,95%CI=1.111-3.704,P=0.021;OR=1.836,95%CI=1.033-3.262,P=0.038).Conclusion:Among the COPD population in the Luohe area,there is a significant correlation between the genotypes of three SNPs loci,rs3859664,rs6084444,and rs611847 and susceptibility to COPD in different subgroups of the population.The rs3859664 A/G-A/A and rs6084444 A/G-G/G genotypes can increase the risk of COPD in smokers;the rs611847 heterozygous A/G genotype can reduce the risk of COPD in both female and smoking populations.

Gene frequency of five genetic characteristics in six nationalities in Southern Guizhou Province,China

Five characteristics(hair forms,nasal profile,nostril forms,mongoloid fold and upper eyelid fold)were respectively investigated in six nationalities,including the Buyi,Miao,Shui,Maonan,Dong,and Han nationalities in Southern Guizhou,China.The gene frequencies of five characteristics in the six nationalities were estimated and compared.The results indicated that:(1)for hair forms and nasal profile,the frequency of the dominant gene was lower than that of their recessive gene,but the opposite was true for nostril forms.(2)Among different nationalities,the difference of gene frequency of the mongoloid fold,nasal profile,hair forms and upper eyelid fold was quite significant,which was followed by that of nostril forms.

Prevalence and gene frequency of color vision impairments among children of six populations from North Indian region

X-linked redegreen color blindness is the most widespread form of vision impairment.The study aimed to determine the prevalence and gene frequencies of redegreen color vision impairments among children of six different human populations of Jammu province.A total of 1028 healthy subjects(6e15 years of age)were selected from five Muslim populations and the color vision impairments were determined using the Ishihara’s test of color deficiency.The gene frequency was calculated using HardyeWeinberg equilibrium method.The prevalence of color vision deficiency(CVD)ranged from 5.26%to 11.36%among males and 0.00%e3.03%among females of six different populations.The gender based differences in the frequency of CVD was found to be statistically significant(p<0.0001),with a higher prevalence among male(7.52%)as compared to female(0.83%)children.We observed high frequency of deutan as compared to protan defects.The incidences of deuteranomaly(5.68%)and deuteranopia(2.27%)were higher among male children of Syed population while the frequencies of protanomaly(1.94%),protanopia(1.28%)and achromacy(2.27%)were the highest among male subjects of Khan,Malik and Syed populations,respectively.The allele and genotype frequencies showed cogent differences among six populations.The population based assessment of CVDs help patients to follow adaptive strategies that could minimize the risks of the disease.

Genetic screening of 5 blood group systems of Li ethnic group in Hainan province and establishment of rare blood group bank

Objective:To screen the blood group system genes of Duffy,Lutheran,Kidd,Diego,Dombrock blood group systems of Li ethnic group in Hainan Province and provide laboratory data for the rare blood group database in this area.Methods:The alleles of Duffy,Lutheran,Kidd,Diego,Dombrock blood group systems of 300 voluntary participants of Li ethnic group in Hainan were detected by sequence-specific primer polymerase chain reaction,and the polymorphism was analyzed.Results:The allele frequencies of Duffy,Lutheran,Kidd,Diego,Dombrock blood group systems of Li ethnic groups in Hainan Province are 0.9583 for Fy^(a),0.0417 for Fy^(b),0.8350 for Au^(a),0.1650 for Au^(b),0.4500 for Jk^(a),0.5500 for Jk^(b),0.0667 for Di^(a),0.9333 for Di^(b),0.1017 for Doa and 0.8983 for Dob,respectively.The antigen incompatibility rates of Fy^(a)/Fy^(b),Au^(a)/Au^(b),Jk^(a)/Jk^(b),Di^(a)/Di^(b),Doa/Dob of Duffy,Lutheran,Kidd,Diego,Dombrock blood group systems were 7.67%,23.76%,37.25%,11.67%and 16.60%,respectively.Conclusion:The gene frequencies of Duffy,Lutheran,Kidd,Diego,Dombrock blood group systems of Li ethnic group in Hainan Province are polymorphic,and the antigen incompatibility rates of alleles are higher,which is quite different from that of other nationalities in China and with unique ethnic distribution characteristics.It is of great significance to establish the rare blood group database in this region.

PCR analysis of Yq microdeletions in infertile males, a study from South India

AIM: To estimate the frequency of microdeletions in the long arm of Y-chromosome of 20 infertile males from South India. METHODS: Polymerase chain reaction (PCR) amplification using Y-specific STS of azoospermia factor (AZF) regions i.e., SY 84 for AZFa, SY 127 for AZFb and SY 254 for AZFc. RESULTS: Of the 20 infertile subjects 3 (15 %), one azoospermic and two oligozoospermic, showed microdeletions in the AZF region of Y-chromosome. CONCLUSION: The frequency of deletions involving AZF region of the Y-chromosome is 15 % in azoospermic and severely oligozoospermic infertile men. PCR amplification of AZF locus is useful for the diagnosis of microdeletions in the Y-chromosome.

Comparison of STR polymorphism among a Kirgiz ethnic group from Sinkiang and other groups

Objective To study the genetic relationship between Kirgiz individuals living in Sinkiang China and analyze the difference among Kirgiz and the other population with STR polymorphisms.Methods PCR amplification was performed using PE9700,the PCR products were typed by automated sequencer and genescan.Results A database of nine STR loci of Kirgiz was established.It shows there are at least 73 STR alleles and 191 genotypes in Kirgiz.Genotype frequencies distribution showed no deviation from Hardy-Weinberg equilibrium by χ2-test.Kirgiz was compared with the other Chinese ethnic groups,then the American Black and the White.Conclusion These results suggested that the nine STR loci and Amelogenin locus were very useful in human identification,biological archaeology and gene resource studies.

Genetic background of idiopathic neurodevelopmental delay patients with significant brain deviation volume

Background:Significant brain volume deviation is an essential phenotype in children with neurodevelopmental delay(NDD),but its genetic basis has not been fully characterized.This study attempted to analyze the genetic factors associated with significant whole-brain deviation volume(WBDV).Methods:We established a reference curve based on 4222 subjects ranging in age from the first postnatal day to 18 years.We recruited only NDD patients without acquired etiologies or positive genetic results.Cranial magnetic resonance imaging(MRI)and clinical exome sequencing(2742 genes)data were acquired.A genetic burden test was performed,and the results were compared between patients with and without significant WBDV.Literature review analyses and BrainSpan analysis based on the human brain developmental transcriptome were performed to detect the potential role of genetic risk factors in human brain development.Results:We recruited a total of 253 NDD patients.Among them,26 had significantly decreased WBDV(<-2 standard deviations[SDs]),and 14 had significantly increased WBDV(>+2 SDs).NDD patients with significant WBDV had higher rates of motor development delay(49.8%[106/213]vs.75.0%[30/40],P=0.003)than patients without significant WBDV.Genetic burden analyses found 30 genes with an increased allele frequency of rare variants in patients with significant WBDV.Analyses of the literature further demonstrated that these genes were not randomly identified:burden genes were more related to the brain development than background genes(P=1.656e^(-9)).In seven human brain regions related to motor development,we observed burden genes had higher expression before 37-week gestational age than postnatal stages.Functional analyses found that burden genes were enriched in embryonic brain development,with positive regulation of synaptic growth at the neuromuscular junction,positive regulation of deoxyribonucleic acid templated transcription,and response to hormone,and these genes were shown to be expressed in neural progenitors.Based on single cell sequencing analyses,we found TUBB2B gene had elevated expression levels in neural progenitor cells,interneuron,and excitatory neuron and SOX15 had high expression in interneuron and excitatory neuron.Conclusion:Idiopathic NDD patients with significant brain volume changes detected by MRI had an increased prevalence of motor development delay,which could be explained by the genetic differences characterized herein.

Association between cholesteryl ester transfer protein gene polymorphisms and variations in lipid levels in patients with coronary heart disease

BACKGROUND: The Taq/B, Msp/ and I405V polymorphisms of cholesteryl ester transfer protein (CETP), an important regulatory factor of lipid metabolism, have been attracted much more attention by the researchers. In this study, we investigated the associations between these 3 polymorphisms of CETP gene and variations in plasma lipid and lipoprotein levels in patients with coronary heart disease (CHD). METHODS: Genomic DNA was extracted from leukocytes of 203 CHD patients and 100 control subjects using the salting out method. Genotyping of the CETP gene was performed using polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP) techniques. Statistical analysis was conducted using the SPSS 10.0 software package. RESULTS: The distribution of allele and genotype frequencies of the Taq/B, MspI, and I405V polymorphisms was similar in the CHD patient group and the control group. The B1B1 genotype of the Taq/B polymorphism was associated with significantly higher TC (P=0.039) and LDL-C (P=0.044) levels than the B2B2 genotype in CHD patients, and with significantly higher LDL-C (P=0.034) levels than the B2B2 genotype in controls. Homozygotes of the I405V polymorphism exhibited significantly higher HDL-C levels than VV homozygotes among control subjects (P=0.023). In male CHD patients with unambiguously assigned haplotypes, B2-M2-V/B2-M2-I patients demonstrated significantly higher HDL-C concentrations than B1-M2-V/B1-M2-I (P=0.023) and B1-M2-V/B1-M2-V patients (P=0.047). CONCLUSIONS: Genetic variations in the CETP gene may account for a significant proportion of the differences in plasma lipid and lipoprotein concentrations among the general population. The B1B1 genotype of the Taq/B polymorphism is probably a genetic risk factor for CHD in the study population.