The beta-globin gene haplotypes associated with Hb D-Los Angeles [beta121(GH4)Glu --> Gln] in Western Iran.
Hb D-Los Angeles is characterized by the substitution of glutamine for glutamic acid at position 121 of the beta-globin chain. The present investigation is the first study on the beta-globin gene haplotypes associated with beta-D-Los Angeles in Western Iran. Thirty two individuals from 11 unrelated families from Western Iran were studied. The Hb D-Los Angeles status of all cases was confirmed using polymerase chain reaction (PCR) followed by digestion with EcoRl. The haplotype of the beta-globin gene cluster was determined by a PCR-RFLP (restriction fragment length polymorphism) procedure. The haplotype background of the betaA chromosomes was also determined in 35 normal subjects from the same geographic region. The beta-globin gene haplotype analysis demonstrated that all beta-D-Los Angeles genes (23 genes) were in linkage disequilibrium with haplotype I [+----++]. Among the 70 betaA chromosomes, 30 chromosomes (42.9%) were associated with haplotype I. The present study indicates the unicentric origin of the beta-D-Los Angeles gene in Western Iran. It seems that this mutation may have occurred at the same chromosomal background common in the local population.
Medical Biology Research Center, Kermanshah University of Medical Sciences, Kermanshah, Iran. zrahimi@kums.ac.ir
Zohreh
Z
Rahimi
Reza
R
Akramipour
Ronald L
RL
Nagel
Ali S
AS
Ahmadi
Ahmad
A
Merat
Fariborz
F
Bahrehmand
D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D004247:DNA / Q000032:analysis; D005260:Female; D005914:Globins / Q000032:analysis / Q000235:genetics*; D006239:Haplotypes; D006455:Hemoglobins, Abnormal / Q000032:analysis / Q000235:genetics*; D006801:Humans; D007223:Infant; D007492:Iran / Q000453:epidemiology; D008297:Male; D017354:Point Mutation; D016133:Polymerase Chain Reaction / Q000379:methods
D006455:Hemoglobins, Abnormal; D005914:Globins; D004247:DNA; C026237:hemoglobin D Punjab