Objective To build the forecasting system on spatial coverage of cumulative phenotypic frequency (CPF) of HLA- Ⅰ for designing HLA-based vaccines (epitopes or DNA vaccines) and evaluating their effects in China. Methods The spatial database of HLA- Ⅰgenes of Chinese (across the land of China) was set up, and then the spatial forecasting system of CPF was designed using Kriging technique.Results Using this spatial forecasting system, the vaccine designer could predict the spatial coverage of CPF for any combination of the alleles confined to a single class Ⅰ locus, either HLA-A or HLA-B, as well as for any combination of alleles at these two loci of each given population at any geographical location across the land of China. Conclusions This system is applicable in the following rields: ①To provide for the identification of alleles that represent a desired percentage of populations across the land of China and that can be targeted for vaccine composition. ② To predict the theoretical responder status of vaccines whose HLA restricted epitopes have already been known in given population at any geographical location across the land of China. (③) To identify how many individuals will be non-responders to a HLA-based vaccine across the land of China.

OBJECTIVETo determine the genomic structure of low density lipoprotein receptor related protein 5 (LRP5) gene.

METHODScDNA sequence encoding LRP5 was used to screen genomic clones containing LRP5 gene by computer hybridization approach. By comparing the cDNA sequence of LRP5 with the genomic sequences, the genomic structure of LRP5 was determined, and then it was conformed by amplifying and sequencing the sequences of exons and splicing junction.

RESULTSThe genomic sequence of LRP5 gene was 131.6 kb in length, containing 23 exons and 22 introns. Three single nucleotide polymorphisms were detected within the coding sequences of LRP5 gene, namely A459G in exon 2, C2220T in exon 10 and G4416C in exon 21. Four polymorphic markers, D11S1917, D11S4087, D11S1337 and D11S4178, located in the 5' flank sequence, introns 1, 4, and 13 of the LRP5 gene, respectively.

CONCLUSIONThe characterization of genomic structure of LRP5 gene allows the investigators to detect disease-causing mutation within the gene and further study the function of LRP5 gene.

Base Sequence ; DNA ; chemistry ; genetics ; Exons ; Genes ; genetics ; Humans ; Introns ; LDL-Receptor Related Proteins ; Low Density Lipoprotein Receptor-Related Protein-5 ; Polymorphism, Single Nucleotide ; Receptors, LDL ; genetics ; Sequence Analysis, DNA

OBJECTIVETo determine the linkage between Smith-Fineman-Myers syndrome (SFMS) and X-linked nuclear protein(XNP) locus.

METHODSPolymerase chain reaction and denaturing polyacrylamide gel electrophoresis were used to genotype two polymorphic short tandem repeats within XNP gene.

RESULTSOne of the two short tandem repeats was informative in SFMS family from Shandong, China. Recombination between SFMS locus and XNP gene was observed in the SFMS family.

CONCLUSIONXNP gene is not associated with the disease in the SFMS family from Shandong, China. SFMS exhibits locus heterogeneity at molecular level.

Abnormalities, Multiple ; genetics ; Craniofacial Abnormalities ; genetics ; DNA Helicases ; Female ; Genetic Linkage ; Growth Disorders ; genetics ; Humans ; Intellectual Disability ; genetics ; Male ; Muscle Hypotonia ; genetics ; Nuclear Proteins ; genetics ; Pedigree ; Phenotype ; Polymorphism, Genetic ; Recombination, Genetic ; Syndrome ; X Chromosome ; X-linked Nuclear Protein

OBJECTIVETo map the gene responsible for nonsyndromic hearing impairment in a consanguineous family.

METHODSFirstly, X chromosome scanning was used to exclude X chromosome. Secondly, candidate gene analyzing and genome scanning were performed by homozygosity mapping. Then, additional markers flanking the tightly linked marker were tested to confirm linkage and decide the candidate region.

RESULTSThe nonsyndromic hearing impairment of this family was autosomal recessive. Twenty-five known genes were excluded. Autosomal genome scanning indicated that D17S1293 was tightly linked with disease gene. And further study mapped the disease gene to a 5.07 cM interval bounded by D17S1850 and D17S1818.

CONCLUSIONThe disease gene of the family is mapped to a 5.07 cM interval between D17S1850 and D17S1818, which is a new locus of autosomal recessive nonsyndromic hearing impairment.

Chromosome Mapping ; methods ; Chromosomes, Human, Pair 17 ; genetics ; Chromosomes, Human, Pair 18 ; genetics ; Chromosomes, Human, X ; genetics ; Consanguinity ; Family Health ; Female ; Genetic Predisposition to Disease ; genetics ; Hearing Loss, Sensorineural ; genetics ; Humans ; Male ; Microsatellite Repeats ; Pedigree