[Gene identification and pedigree analysis of the double mutation heterozygote of beta-thalassemia[-28(A-->G).CD17(A-->T)/N]].
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.
Yu
W
W
Laboratory of Medical Genetics, Urumqi General Hospital of Lanzhou Military Region, PLA, Urumqi 830000.
Houjun
L
L
Qui
D
D
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
D015703:Antigens, CD