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Abbravation: Journal of Human Genetics

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Nature Publishing Group

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10.1007/bf02766889

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1435-232X

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A comprehensive method to scan for point mutations

Authors: Taku Shirakawa Kaoru Nishiyama Lai PohSan Masafumi Matsuo
Publish Date: 1997/09
Volume: 42, Issue: 3, Pages: 417-
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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 JavaScriptWe have developed a fast and comprehensive method to scan for point mutations in a gene on X chromosome A target region of the gene is first amplified Then using the amplified product as a template PCR is carried out with multiple shortlength forward primers arrayed in tandem in the scanned region and a common reverse primer The absence of amplified product defines the site of a mutation within a narrow region of the primer recognition site To evaluate our method point mutations in exon 12 of the human glucose6phosphate dehydrogenase G6PD gene were used as a model system Out of 12 Singaporean G6PDdeficient patients 6 cases were shown by the method to have a nucleotide change in this exon Sequence analysis confirmed the presence of a nucleotide change in the region identified by our scanning Thus our method is accurate in localizing mutations within a narrow region and allows large numbers of samples to be handled simultaneously

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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. Dynamin 2 gene is a novel susceptibility gene for late-onset Alzheimer disease in non- APOE -ε4 carriers
  11. A linkage disequilibrium at the candidate gene locus for 16q-linked autosomal dominant cerebellar ataxia type III in Japan
  12. The hOGG1 Ser 326 Cys gene polymorphism is associated with decreased insulin sensitivity in subjects with normal glucose tolerance
  13. Concordance and discordance of anencephaly in 109 twin pairs in Japan
  14. Molecular cloning of a novel human gene ( SIRP-B2 ) which encodes a new member of the SIRP/SHPS-1 protein family
  15. Genomic imprinting and its relevance to genetic diseases
  16. No evidence for significant association between GABA receptor genes in chromosome 15q11-q13 and autism in a Japanese population
  17. Ret/PTC3 is the most frequent form of gene rearrangement in papillary thyroid carcinomas in Japan
  18. Subsequent pregnancy outcomes in recurrent miscarriage patients with a paternal or maternal carrier of a structural chromosome rearrangement
  19. Cancer-predisposing genes and chromosome mutation
  20. A disease with immune deficiency, skin abscesses, pancytopenia, abnormal bone marrow karyotype, and increased sister chromatid exchanges: An autosomal recessive chromosome instability syndrome?
  21. Allele frequencies of single nucleotide polymorphisms (SNPs) in 40 candidate genes for gene-environment studies on cancer: data from population-based Japanese random samples
  22. Analysis of the HLA-DRw9 antigen using two-dimensional gel electrophoresis and alloantisera
  23. High heritability of bone size at the hip and spine in Chinese
  24. Dual origins of the Japanese: common ground for hunter-gatherer and farmer Y chromosomes
  25. Amelioration of prolidase deficiency in fibroblasts using adenovirus mediated gene transfer
  26. In situ detection of insulin-like growth factor II ( IGF2 ) and H19 gene expression in hepatocellular carcinoma
  27. A novel missense mutation of the EDA gene in a Mongolian family with congenital hypodontia
  28. Molecular basis of intermittent maple syrup urine disease: novel mutations in the E2 gene of the branched-chain α-keto acid dehydrogenase complex
  29. Common coding variant in the TCF7L2 gene and study of the association with type 2 diabetes in Japanese subjects
  30. Saliva acid phosphatases and amylase in Senoi and Aboriginal Malays and superoxide dismutase in various racial groups of peninsular Malaysia
  31. High prevalence of Southeast Asian ovalocytosis in Malays with distal renal tubular acidosis
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  33. A common functional exon polymorphism in the microsomal triglyceride transfer protein gene is associated with type 2 diabetes, impaired glucose metabolism and insulin levels
  34. Study of AZFc partial deletion gr/gr in fertile and infertile Japanese males
  35. Genetic polymorphism of the a subunit of human coagulation factor XIII in Japanese
  36. Mutational analysis of ATP7B gene in Egyptian children with Wilson disease: 12 novel mutations
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