title: [Gene identification and pedigree analysis of the double mutation heterozygote of beta-thalassemia[-28(A-->G).CD17(A-->T)/N]].
abstract: OBJECTIVE
  To report the result of gene identification and pedigree analysis of the double mutation heterozygote of beta-thalassemia[-28(A-->G).CD17(A-->T)/N].
  
  
  METHODS
  Polymerase chain reaction in combination with dot-blot hybridization of allele-specific oligonucleotide(PCR/ASO) probes was used.
  
  
  RESULTS
  Gene identification was carried out in four probands and 35 other family members. There were 22 patients with beta-thalassemia -28(A-->G) and CD17(A-->T) mutant gene. Based on the clinical features, the results of hematological and biochemical examinations and pedigree analysis, they proved to be the double mutation heterozygote of beta-thalassemia[-28(A-->G).CD17(A-->T)/N], i.e., double point mutations on the same chromosome.
  
  
  CONCLUSIONS
  Double mutation heterozygote[-28(A-->G).CD17(A-->T)/N] is a new type of beta-thalassemia.
authors.affiliation: Laboratory of Medical Genetics, Urumqi General Hospital of Lanzhou Military Region, PLA, Urumqi 830000.
authors.forename: W
authors.initials: W
authors.lastname: Yu
authors.forename: L
authors.initials: L
authors.lastname: Houjun
authors.forename: D
authors.initials: D
authors.lastname: Qui
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000483:Alleles; D015703:Antigens, CD / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D005260:Female; D006579:Heterozygote; D006801:Humans; D007223:Infant; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D017354:Point Mutation; D017086:beta-Thalassemia / Q000235:genetics* / Q000276:immunology
chemical_list: D015703:Antigens, CD