چكيده لاتين :
Background: Indirect genetic diagnosis using polymorphic
DNA markers can detect carriers of hemophilia A, This technique
is preferable in developing countries because of its simplicity
and cost effectiveness compared to direct mutation analysis.
In the present study, we examined usefulness of intragenic
marker Bell restriction .fragment length polymorphism (RFLP) at
intron 18, for carrier detection. How this marker is informative
was tested in 102 members of 16 hemophiliac families from Sistan
and Baluchestan province, Southeast of Iran.
Methods: Blood samples were obtained from 29 hemophili a
A patients and 73 of their relatives, after taking informed consents.
DNA was extracted using proteinase K digestion followed
by DNA precipitation. Factor VIII gene polymorphism
was identified by the polymerase chain reaction/RFLP which
is both sensitive and economical.
Results: Our results showed that almost 69.8% of Xchromosomes
had restriction s ite for Bell enzyme. The heterozygosity
rate for Bell polymorphism in tested women was
61.4%, signifyin g the usefulne ss of this marker in carr ier detection.
The informative rate respecting this polymorphism
was 43.7% meaning that a remarkable percent of families
from the target population could be diagnosed using this
marker alone.
Conclusion: In Sistan and Baluchestan province where there
is limited access to sophisticated facilities of molecular diagnosis,
use of PeR-based analysis of DNA polymorph ism in
the Bc/l locus can be used to identify a remarkable percent age
of the carr iers and even for prenatal diagno sis. Meanwhile , it
is necessary to evaluate the effec tiveness of other polymorphic
DNA markers to enhance the informative rate .
