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Abbravation: Journal of Human Genetics

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Nature Publishing Group

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10.1007/bf01340290

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1435-232X

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Linkage study of dominantly inherited olivoponto

Authors: Hidenao Sasaki Akemi Wakisaka Toshiaki Katoh Michihiro C Yoshida Takeshi Hamada Kohji Shima Tohru Matsuura Kunio Tashiro
Publish Date: 1988/12
Volume: 33, Issue: 4, Pages: 423-
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Abstract

Thank you for visiting naturecom You are using a browser version with limited support for CSS To obtain the best experience we recommend you use a more up to date browser or turn off compatibility mode in Internet Explorer In the meantime to ensure continued support we are displaying the site without styles and JavaScriptBoth autosomal dominant olivopontocerebellar atrophy OPCA and Holmes ataxia are the progressive neurodegenerative disorders of adulthood with unknown biochemical defects In order to determine the genetic locus and possible genetic heterogeneity linkage study was performed in 19 OPCA families comprising 180 individuals with 60 affected patients and two Holmes ataxia families comprising 39 individuals with 10 affected patients By using computer program LIPED linkage of each disorder was analyzed to 12 blood groups 5 red cell enzymes HLAA −B −C and F13A No evidence suggesting linkage to these two disorders was obtained in the markers examined including three 6p markers such as HLA GLO1 and F13A Furthermore in 14 out of 15 HLAinformative OPCA families negative lod scores for OPCA with HLA were obtained at most recombination fractions Our results provide further evidence suggesting the genetic heterogeneity of dominant OPCA


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Other Papers In This Journal:

  1. Clinical and genetic analysis of HLXB9 gene in Korean patients with Currarino syndrome
  2. Mitochondrial DNA mutations in Leigh syndrome and their phylogenetic implications
  3. Distal 15q trisomy with Dandy-Walker malformation in a female infant
  4. Molecular cloning, mapping, and characterization of a novel human gene, MTA1-L1 , showing homology to a metastasis-associated gene, MTA1
  5. G6PD Viangchan (871G>A) is the most common G6PD-deficient variant in the Cambodian population
  6. Mucopolysaccharidosis IVA: A novel splice acceptor site mutation in intron 4 of the N -acetylgalactosamine-6-sulfate sulfatase gene in an afghanistan girl with classical morquio disease
  7. Genetic alteration of the DCX gene in Japanese patients with subcortical laminar heterotopia or isolated lissencephaly sequence
  8. Isolation of human chromosome 21-specific cosmids and their uses in mapping of cosmid contigs on chromosomal subregions
  9. Novel polymorphism in the 5′-untranslated region of the interleukin-4 gene
  10. A comprehensive method to scan for point mutations of the glucose 6 phosphate dehydrogenase gene
  11. Dynamin 2 gene is a novel susceptibility gene for late-onset Alzheimer disease in non- APOE -ε4 carriers
  12. A linkage disequilibrium at the candidate gene locus for 16q-linked autosomal dominant cerebellar ataxia type III in Japan
  13. The hOGG1 Ser 326 Cys gene polymorphism is associated with decreased insulin sensitivity in subjects with normal glucose tolerance
  14. Concordance and discordance of anencephaly in 109 twin pairs in Japan
  15. Molecular cloning of a novel human gene ( SIRP-B2 ) which encodes a new member of the SIRP/SHPS-1 protein family
  16. Genomic imprinting and its relevance to genetic diseases
  17. No evidence for significant association between GABA receptor genes in chromosome 15q11-q13 and autism in a Japanese population
  18. Ret/PTC3 is the most frequent form of gene rearrangement in papillary thyroid carcinomas in Japan
  19. Subsequent pregnancy outcomes in recurrent miscarriage patients with a paternal or maternal carrier of a structural chromosome rearrangement
  20. Cancer-predisposing genes and chromosome mutation
  21. A disease with immune deficiency, skin abscesses, pancytopenia, abnormal bone marrow karyotype, and increased sister chromatid exchanges: An autosomal recessive chromosome instability syndrome?
  22. Allele frequencies of single nucleotide polymorphisms (SNPs) in 40 candidate genes for gene-environment studies on cancer: data from population-based Japanese random samples
  23. Analysis of the HLA-DRw9 antigen using two-dimensional gel electrophoresis and alloantisera
  24. High heritability of bone size at the hip and spine in Chinese
  25. Dual origins of the Japanese: common ground for hunter-gatherer and farmer Y chromosomes
  26. Amelioration of prolidase deficiency in fibroblasts using adenovirus mediated gene transfer
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  28. A novel missense mutation of the EDA gene in a Mongolian family with congenital hypodontia
  29. Molecular basis of intermittent maple syrup urine disease: novel mutations in the E2 gene of the branched-chain α-keto acid dehydrogenase complex
  30. Common coding variant in the TCF7L2 gene and study of the association with type 2 diabetes in Japanese subjects
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  34. Study of AZFc partial deletion gr/gr in fertile and infertile Japanese males
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