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Human Genetics
Ke** Zhang
Article
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Article
Osteogenesis imperfecta due to recurrent point mutations at CpG dinucleotides in the COL1A1 gene of type I collagen
Most individuals with osteogenesis imperfecta (OI) are heterozygous for dominant mutations in one of the genes that encode the chains of type I collagen. Each of the more than 30 mutations characterized to dat...
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Polymorphism of the T-cell receptor gamma variable and constant region genes in a Chinese population
The human T-cell receptor gamma gene region spans 160 kb genomic DNA. Restriction fragment length polymorphisms (RFLPs) have been previously documented for the constant region (TRGC) genes, the joining (TRGJ) ...
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CG dinucleotide transitions in the factor IX gene account for about half of the point mutations in hemophilia B patients: a Seattle series
Hemophilia B is due to multiple molecular defects in the factor IX gene. Over 80% of mutations are single base substitutions. By amplification and direct sequencing, 51 single base substitutions were found in ...
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The mechanism for a 33-nucleotide insertion in mRNA causing sphingolipid activator protein (SAP-1)-deficient metachromatic leukodystrophy
Metachromatic leukodystrophy is a severe autosomal recessive disorder caused by accumulation of sulfatide resulting from deficient lysosomal degradation. While most patients have mutations in the lysosomal enz...
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The effects of ploidy level on the thermal distributions of brine shrimp Artemia parthenogenetica and its ecological implications
The responses to temperature change of sympatric diploid and pentaploid brine shrimp Artemia parthenogenetica were studied. Pentaploids survive better at extremes of both cold (0°C) and heat (37.5°C). When placed...
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Tyrosine hydroxylase- and neuropeptide Y-immunoreactive nerve fibers in the pineal complex of untreated rats and rats following removal of the superior cervical ganglia
The distribution of tyrosine hydroxylase (TH)- and neuropeptide Y (NPY)-immunoreactive(IR) nerve fibers in the pineal complex was investigated in untreated rats and rats following bilateral removal of the supe...
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Genetic diversity in the Chinese pangolin (Manis pentadactyla): Inferred from restriction enzyme analysis of mitochondrial DNAs
Two different forms of Chinese pangolins can be recognized according to the color of their scales, i.e., brown and dusky. We analyzed mitochondrial DNA (mtDNA) purified from the livers of seven dusky and six b...
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Nucleotide sequence and molecular analysis of the low temperature induced cereal gene, BLT4
The nucleotide sequence and derived amino acid sequence of a cDNA clone (BLT4) for a low temperature induced barley gene were determined. This gene, together with a small family of related genes, was shown to ...
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The genomic structure of two ancestral haplotypes carrying C4A duplications
Two major histocompatibility complex (MHC) ancestral haplotypes (AH) HLA A24, Bw52, C2C, BfS, C4A3 + 2, C4BQO, DRw15, DQw6 (52.1) and HLA A24, Cw7, B7, C2C, BfS, C4A3 + 3, C4B1, DR1, DQw5 (7.2), which occur with ...
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Genetic diversity in the Chinese pangolin (Manis pentadactyla): Inferred from restriction enzyme analysis of mitochondrial DNAs
Two different forms of Chinese pangolins can be recognized according to the color of their scales, i.e., brown and dusky. We analyzed mitochondrial DNA (mtDNA) purified from the livers of seven dusky and six b...
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A rare genetic variant of the T cell receptor gamma joining segment TRGJI
A rare HindIII restriction fragment variant of the human T cell receptor gamma joining segment TRGJ1 has been identified, in addition to two previously described alleles.
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Genetic variation in sympatric populations of diploid and polyploid brine shrimp (Artemia parthenogenetica)
We examined genetic variation in sympatric diploid and polyploid brine shrimp Artemia parthenogenetica from each of three populations (China, Italy and Spain). Italian and Spanish tetraploids are closely related ...
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Molecular basis of inherited medium-chain acyl-CoA dehydrogenase deficiency causing sudden child death
Deficiency of medium-chain acyl-CoA dehydrogenase (MCAD) is an important cause of sudden death in children. The majority of surviving individuals with MCAD deficiency studied to date are homozygous for a singl...
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Monoallelic expression of the human H19 gene
Monoallelic expression of several genes has been observed in mice in which transcripts from parental homologues are distinguishable, but this phenomenon has not been demonstrated in humans. One monoallelically...
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RNA analysis from newborn screening dried blood specimen
We have previously demonstrated that DNA can be extracted from the dried blood specimen of the type used for newborn screening. The technique presented here allows us to extract RNA from newborn screening spec...
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Gene frequencies of alcohol dehydrogenase2 and aldehyde dehydrogenase2 in Northwest Coast Amerindians
The frequencies of the alleles encoding isozymes of alcohol dehydrogenase and aldehyde dehydrogenase were low in Northwest Coast Amerindians compared to Chinese subjects.
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Structural and functional relationships of human DNA polymerases
A continuing theme of our laboraory, has been the understanding of human DNA polymerases at the structural level. We have purified DNA polymerases delta, epsilon and alpha from human placenta. Monoclonal antib...
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Isolation and characterization of a DNA helicase from cytosolic extracts of calf thymus
A DNA helicase has been isolated from calf thymus tissue. The enzyme was enriched from crude cytosolic extracts by batchwise chromatography on phosphocellulose, followed by 35% ammonium sulfate precipitation, ...
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Organization and evolution of C4 and CYP21 genes in primates: importance of genomic segments
The evolutionary relationship between two central major histocompatibility complex (MHC) genes, C4 and CYP21, was investigated by employing pulsed field gel electrophoresis (PFGE) and conventional restriction fra...
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Mutational analysis in a patient with a variant form of Gaucher disease caused by SAP-2 deficiency
It is now clear that the lysosomal hydrolysis of sphingolipids requires both lysosomal enzymes and so-called sphingolipid activator proteins (SAPs). One gene, called prosaposin, codes for a precursor protein t...
