|
Rare and unexpected beta
thalassemic mutations in Qazvin province of Iran
Mohammad Reza Sarookhani* and Mohammad Hosein
Ahmadi
School of
public health, Qazvin University of medical sciences,
Bahonar Blvd, Qazvin, Iran.
*Corresponding author.
E-mail:
sarokhani2002@yahoo.com. Tel: +98 281 2237269,
+989121823059.
Fax: +98 281 3345862.
Accepted
28 September, 2009 |
|
About 13 beta-globin mutations encompass 70 - 90% of mutation
spectrum in Iran. These mutations are called common beta-globin
mutations. The rest are rare or unknown mutations. The
objective of this study was to identify and describe rare or
unknown beta-globin mutations in Qazvin province. EDTA-containing
venous blood samples were collected from 100 patients with
transfusion-dependent beta-thalassemia from the department
of pediatrics of Qods hospital of Qazvin. Screening for
causal mutations was carried out on DNA isolated from WBC΄s
of the patients by using Amplification Refractory System
(ARMS) technique. 14.1% of alleles which were not discovered
by ARMS, were uncovered by direct sequencing that include 9
different rare mutations. Thirty-seven combinations of
alleles (genotypes) were recognized in all affected
patients. The frequency of mutations of nt-30, IVS I-6, Cd5,
IVS II-745, 5´ UTR, Cd15, Cd39, IVS I-130, Cd24, Cd74/75,
HbS and Hb Monroe were about 1% or less. We have revealed
and described the existence of 9 rare mutations from Qazvin,
two of which (Cd74/75 and Hb Monroe) are the first reported
in Iran.
Key words:
Rare thalassemia mutations, beta globin gene, Qazvin, direct
sequencing. |
