title: [A case of nt 1004C --> A G6PD gene mutation in Yunnan Han people].
abstract: OBJECTIVE
  To search for novel G6PD gene mutation in Yunnan.
  
  
  METHODS
  After excluding common mutations among Chinese, 2 approximately 12 exons of G6PD gene were screened by PCR-SSCP, and those with an abnormal electrophoretic pattern were further sequenced.
  
  
  RESULTS
  During a survey of G6PD deficiency in a population of 823 individuals in Yunnan, 54 cases were found with the deficiency. The gene mutations were studied in 29 cases of them. Nineteen cases of nt 1388 G --> A, and 1 of nt 1381 G --> A mutations were identified. In the remaining 9 cases, an abnormal PCR-SSCP pattern was found in one case. A single base substitution of nt 1004 C --> A, which resulted in Ala339 --> Asp, was revealed by PCR-direct sequencing.
  
  
  CONCLUSIONS
  This mutation is the second case in Chinese, and the first case in Yunnan province.
authors.affiliation: Department of Medical Genetics, Sun Yat-sen Universtity of Medical Sciences, Guangzhou 510089.
authors.forename: C
authors.initials: C
authors.lastname: Du
authors.forename: Y
authors.initials: Y
authors.lastname: He
mesh_terms: D000328:Adult; D044466:Asian People / Q000235:genetics*; D001483:Base Sequence; D002681:China / Q000208:ethnology; D005091:Exons / Q000235:genetics; D005787:Gene Frequency; D005838:Genotype; D005954:Glucosephosphate Dehydrogenase / Q000737:chemistry / Q000235:genetics*; D006801:Humans; D008297:Male; D009154:Mutation
chemical_list: D005954:Glucosephosphate Dehydrogenase