Background Congenital cataract is a highly heterogeneous disorder at both the genetic and phenotypic levels. This study was conducted to identify disease locus for autosomal dominant congenital cataracts in a four gen...Background Congenital cataract is a highly heterogeneous disorder at both the genetic and phenotypic levels. This study was conducted to identify disease locus for autosomal dominant congenital cataracts in a four generation Chinese family. Methods Family history and clinical data were recorded. All the members were genotyped with microsatellite markers which are close to the known genetic loci for autosomal congenital cataracts. Two-point Lod scores were obtained using the MLINK of the LINKAGE program package （vet 5.1）. Candidate genes were amplified by polymerase chain reaction （PCR） and direct cycle sequencing.Results The maximum Lod score of Zmax=2.11 was obtained with three microsatellite markers D22S258, D22S315, and D22S1163 at recombination fraction θ= 0. Haplotype analysis showed that the disease gene was localized to a 18.5 Mbp region on chromosome 22 flanked by markers D22S1174 and D22S270, spanning the β-crystallin gene cluster. A c.752T→C mutation in exon 6 of CRYBB1 gene, which resulted in a heterozygous S228P mutation in predicted protein, was found to cosegregate with cataract in the family.Conclusions This study identified a novel mutation in CRYBB1 gene in a Chinese family with autosomal dominant congenital cataract. These results provide strong evidence that CRYBB1 is a pathogenic gene for congenital cataract.展开更多
Soybean mosaic virus（SMV） disease is one of the most serious and broadly distributed soybean（Glycine max（L.） Merr.） diseases. Here, we combine the advantages of association and linkage analysis to identify and f...Soybean mosaic virus（SMV） disease is one of the most serious and broadly distributed soybean（Glycine max（L.） Merr.） diseases. Here, we combine the advantages of association and linkage analysis to identify and fine-map the soybean genes associated with resistance to SMV strain SC7.A set of 191 soybean accessions from different geographic origins and 184 recombinant inbred lines（RILs） derived from Kefeng No.1（resistant） Nannong 1138-2（susceptible） were used in this study. The SC7 resistance genes were previously mapped to a 2.65 Mb region on chromosome 2 and a 380 kb region on chromosome 13. Among 19 single nucleotide polymorphisms（SNPs） detected via association analysis in the study, the SNP BARC-021625-04157 was located in the2.65 Mb region, and the SNP BARC-041671-08065 was located near the 380 kb region; three genes harboring the SNPs were probably related to SC7 resistance. The resistance gene associated with BARC-021625-04157 was then finemapped to a region of approximately 158 kb on chromosome2 using 184 RILs. Among the 15 genes within this region, one NBS-LRR type gene, one HSP40 gene and one serine carboxypeptidase-type gene might be candidate SC7 resistance genes. These results will be useful for map-based cloning and marker-assisted selection in soybean breeding programs.展开更多
基金This study was supported by grants from National Natural Science Foundation(No.30471864)National Key Program(No.2003DEA3N026)of China.
文摘Background Congenital cataract is a highly heterogeneous disorder at both the genetic and phenotypic levels. This study was conducted to identify disease locus for autosomal dominant congenital cataracts in a four generation Chinese family. Methods Family history and clinical data were recorded. All the members were genotyped with microsatellite markers which are close to the known genetic loci for autosomal congenital cataracts. Two-point Lod scores were obtained using the MLINK of the LINKAGE program package （vet 5.1）. Candidate genes were amplified by polymerase chain reaction （PCR） and direct cycle sequencing.Results The maximum Lod score of Zmax=2.11 was obtained with three microsatellite markers D22S258, D22S315, and D22S1163 at recombination fraction θ= 0. Haplotype analysis showed that the disease gene was localized to a 18.5 Mbp region on chromosome 22 flanked by markers D22S1174 and D22S270, spanning the β-crystallin gene cluster. A c.752T→C mutation in exon 6 of CRYBB1 gene, which resulted in a heterozygous S228P mutation in predicted protein, was found to cosegregate with cataract in the family.Conclusions This study identified a novel mutation in CRYBB1 gene in a Chinese family with autosomal dominant congenital cataract. These results provide strong evidence that CRYBB1 is a pathogenic gene for congenital cataract.
基金supported in part by the National Basic Research Program of China(973 Program)(2010CB125906)the National Natural Science Foundation of China(31171573,31301342,31370034)+2 种基金the Jiangsu Provincial Support Program(BE2012328)the Program for Changjiang Scholarsthe Innovative Research Team in University(PCSIRT13073)
文摘Soybean mosaic virus（SMV） disease is one of the most serious and broadly distributed soybean（Glycine max（L.） Merr.） diseases. Here, we combine the advantages of association and linkage analysis to identify and fine-map the soybean genes associated with resistance to SMV strain SC7.A set of 191 soybean accessions from different geographic origins and 184 recombinant inbred lines（RILs） derived from Kefeng No.1（resistant） Nannong 1138-2（susceptible） were used in this study. The SC7 resistance genes were previously mapped to a 2.65 Mb region on chromosome 2 and a 380 kb region on chromosome 13. Among 19 single nucleotide polymorphisms（SNPs） detected via association analysis in the study, the SNP BARC-021625-04157 was located in the2.65 Mb region, and the SNP BARC-041671-08065 was located near the 380 kb region; three genes harboring the SNPs were probably related to SC7 resistance. The resistance gene associated with BARC-021625-04157 was then finemapped to a region of approximately 158 kb on chromosome2 using 184 RILs. Among the 15 genes within this region, one NBS-LRR type gene, one HSP40 gene and one serine carboxypeptidase-type gene might be candidate SC7 resistance genes. These results will be useful for map-based cloning and marker-assisted selection in soybean breeding programs.
