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The beta-thalassemia frameshift at codon 8 (-AA) observed in four Chinese of the Uygur nationality
1Laboratory of Medical Genetics, Western Region Hospital, Urumqi, Xinjiang, P.R. China.
Hemoglobin
|December 1, 1993
Abstract:
During a survey for beta-thalassemia in Kashi City, Xinjiang Province, P.R. China, four unrelated Uygur students were identified as heterozygotes for the beta-thalassemia frameshift at codon 8 (-AA). Detection was with the polymerase chain reaction combined with allele-specific oligonucleotide hybridization. This beta-thalassemia allele has not been observed in the Chinese population before and might be rather specific for the Uygur nationality.