中国科技论文在线

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2005年03月04日

【期刊论文】Family-based association study of DTNBP1 in 6p22.3 and schizophrenia

贺林， JX Tang，， J Zhou， JB Fan， XWLi， YY Shi， NF Gu， GY Feng， YL Xing， JG Shi and L He

Molecular Psychiatry (2002) 0, 1-2.，-0001，（）：

-1年11月30日

摘要

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2005年03月04日

【期刊论文】Family-based association studies of COMT gene polymorphisms and schizophrenia in the Chinese population

贺林， JB Fan，， WY Chen， JX Tang， S Li， NF Gu， GY Feng， G Breen， D St Clair and L He

Molecular Psychiatry (2002) 7, 446-447，-0001，（）：

-1年11月30日

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2005年03月04日

【期刊论文】A family-based and case-control association study of the NOTCH4 gene and schizophrenia

贺林， JB Fan，， JX Tang， NF Gu， GY Feng， FG Zou， YL Xing， JG Shi， SM Zhao， SM Zhu， LP Ji， WW Sun， YL Zheng， WQ Liu， G Breen， D St Clair， L He

Molecular Psychiatry (2002) 7, 100-103.，-0001，（）：

-1年11月30日

摘要

Recently a strong positive association between schizophrenia and Notch4 has been reported.1 Both individual markers and haplotypes showed association with the disease, with five markers (three microsatellites and two SNPs) being tested. In order to test this finding we genotyped these markers in the Han Chinese population using a sample of 544 cases and 621 controls as well as 300 trios. Analysis of allele, genotype and haplotype frequencies in both samples showed no association between the markers and the disease. Our results would indicate that a significant role for the Notch4 gene in schizophrenia can be ruled out in the Han Chinese. However, similar studies are necessary in the Caucasian population as linkage disequilibrium arrangements and founder effects may differ between these two populations.

schizophrenia， Han， Chinese， family trios， Notch4， haplotype， TDT

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2005年03月04日

【期刊论文】Mutations in IHH, encoding Indian hedgehog, cause brachydactyly type A-1

贺林， Bo Gao，， Jingzhi Guo， Chaowen She， Anli Shu， Maosheng Yang， Zheng Tan， Xinping Yang， Shengzhen Guo， Guoying Feng， & Lin He

，-0001，（）：

-1年11月30日

摘要

Brachydactyly type A-1 (BDA-1; MIM 112500) is characterized by shortening or missing of the middle phalanges (Fig. 1a)1. It was first identified by Farabee in 1903 (ref. 2), is the first recorded example of a human anomaly with Mendelian autosomal- dominant inheritance and, as such, is cited in most genetic and biological textbooks. Here we show that mutations in IHH, which encodes Indian hedgehog, cause BDA-1. We have identified three heterozygous missense mutations in the region encoding the amino-terminal signaling domain in all affected members of three large, unrelated families. The three mutant amino acids, which are conserved across all vertebrates and invertebrates studied so far, are predicted to be adjacent on the surface of IHH.

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2005年03月04日

【期刊论文】A Locus for Brachydactyly Type A-1 Maps to Chromosome 2q35-q36

贺林， Xinping Yang， Chaowen She， Jingzhi Guo， Albert CH Yu，， Yingjin Lu， XiaoLiu Shi， Guoying Feng， and Lin He

Am. J. Hum. Genet. 66: 000-000, 2000，-0001，（）：

-1年11月30日

摘要

Brachydactyly type A-1 (BDA1) was, in 1903, the first recorded example of a human anomaly with Mendelian autosomal dominant inheritance. Two large families, the affected members of which were radiographed, were recruited in the study we describe here. Two-point linkage analysis for pedigree 1 (maximum LOD score [Zmax] 6.59 at recombination fraction [θ] 0.00) and for pedigree 2 (at) mapped the Z=5.53 v=0.00 locus for BDA1 max in the two families to chromosome 2q. Haplotype analysis of pedigree 1 confined the locus for family 1 within an interval of <8.1cM flanked by markers D2S2248 and D2S360, which was mapped to chromosome 2q35-q36 on the cytogenetic map. Haplotype analysis of pedigree 2 confined the locus for family 2 within an interval of <28.8cM flanked by markers GATA30E06 and D2S427, which was localized to chromosome 2q35-q37. The two families had no identical haplotype within the defined region, which suggests that the two families were not related.

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