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.
Rahimi
Zohreh
Z
Medical Biology Research Center, Kermanshah University of Medical Sciences, Kermanshah, Iran. zrahimi@kums.ac.ir
Akramipour
Reza
R
Nagel
Ronald L
RL
Ahmadi
Ali S
AS
Merat
Ahmad
A
Bahrehmand
Fariborz
F
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