Ⅰ. INTRODUCTION Alpha-1-antitrypsin (A1AT; locus symbol, PI) is one of the main protease inhibitors in serum. Up to now there are at least 50 A1AT variants that have been found in human populations (Cox, D. W., priva...Ⅰ. INTRODUCTION Alpha-1-antitrypsin (A1AT; locus symbol, PI) is one of the main protease inhibitors in serum. Up to now there are at least 50 A1AT variants that have been found in human populations (Cox, D. W., private communication). The distribution of A1AT variants appears highly racial specificity and geographical variability. This展开更多
Background: Rare mutations in surfactant-associatedgenes contribute to neonatal respiratory distress syndrome.The frequency of mutations in these genes in the Chinesepopulation is unknown.Methods: We obtained blood sp...Background: Rare mutations in surfactant-associatedgenes contribute to neonatal respiratory distress syndrome.The frequency of mutations in these genes in the Chinesepopulation is unknown.Methods: We obtained blood spots from the GuangxiNeonatal Screening Center in Nanning, China thatincluded Han (n=443) and Zhuang (n=313) ethnic groups.We resequenced all exons of the surfactant proteins-B(SFTPB), -C (SFTPC), and the ATP-binding cassettemember A3 (ABCA3) genes and compared the frequenciesof 5 common and all rare variants.Results: We found minor differences in thefrequencies of the common variants in the Han andZhuang cohorts. We did not find any rare mutations inSFTPB or SFTPC, but we found three ABCA3 mutationsin the Han [minor allele frequency (MAF)=0.003] and 7 inthe Zhuang (MAF=0.011) cohorts (P=0.10). The ABCA3mutations were unique to each cohort;five were novel.The collapsed carrier rate of rare ABCA3 mutations inthe Han and Zhuang populations combined was 1.3%,which is signifi cantly lower than that in the United States(P<0.001).Conclusions: The population-based frequency ofmutations in ABCA3 in south China newborns is signifi cantlylower than that in United States. The contribution of theserare ABCA3 mutations to disease burden in the south Chinapopulation is still unknown.展开更多
基金Project supported by the Science Fund of Academia Sinica
文摘Ⅰ. INTRODUCTION Alpha-1-antitrypsin (A1AT; locus symbol, PI) is one of the main protease inhibitors in serum. Up to now there are at least 50 A1AT variants that have been found in human populations (Cox, D. W., private communication). The distribution of A1AT variants appears highly racial specificity and geographical variability. This
基金supported by the National Natural Science Foundation of China 81260094(Chen YJ)National Institutes of Health R01 HL065174(Cole FS,Hamvas A),R01 HL082747(Cole FS,Hamvas A),K12 HL089968(Wambach JA,Cole FS),K08 HL105891(Wambach JA)Foundation of Health Department of Guangxi Zhuang Autonomous Region 2012059(Chen YJ).
文摘Background: Rare mutations in surfactant-associatedgenes contribute to neonatal respiratory distress syndrome.The frequency of mutations in these genes in the Chinesepopulation is unknown.Methods: We obtained blood spots from the GuangxiNeonatal Screening Center in Nanning, China thatincluded Han (n=443) and Zhuang (n=313) ethnic groups.We resequenced all exons of the surfactant proteins-B(SFTPB), -C (SFTPC), and the ATP-binding cassettemember A3 (ABCA3) genes and compared the frequenciesof 5 common and all rare variants.Results: We found minor differences in thefrequencies of the common variants in the Han andZhuang cohorts. We did not find any rare mutations inSFTPB or SFTPC, but we found three ABCA3 mutationsin the Han [minor allele frequency (MAF)=0.003] and 7 inthe Zhuang (MAF=0.011) cohorts (P=0.10). The ABCA3mutations were unique to each cohort;five were novel.The collapsed carrier rate of rare ABCA3 mutations inthe Han and Zhuang populations combined was 1.3%,which is signifi cantly lower than that in the United States(P<0.001).Conclusions: The population-based frequency ofmutations in ABCA3 in south China newborns is signifi cantlylower than that in United States. The contribution of theserare ABCA3 mutations to disease burden in the south Chinapopulation is still unknown.
