Carrier Detection by DNA Linkage Analysis in Eighty
Thai Hemophilia A Families
CHULARAT ANA MAHASANDANA, M.D.*, PARICHAT PUNG-AMRITT, B.Sc.*,
AJJIMA TREESUCON, M.Sc.**, SIRIPAN PETRARAT, B.Sc.*,
GAVIVANN VEERAKUL, M.D.*, SUKON VISUDHIPHAN, M.D., Ph.D.**,
PA-THAI YENCHITSOMANUS, Ph.D.***
Affiliation : * Department of Pediatrics,
** Department of Medicine,
*** Office of Research and Development, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok 10700,
Thailand.
AbstractDNA linkage analysis was performed in Thai hemophilia A families to evaluate its value
for carrier detection. Both intragenic and extragenic polymorphic DNA regions of the factor VIII
gene, including Bel 1-RFLP in intron 18, microsatellites (CA repeats) in introns 13 and 22, and extra
genic St14 (DXS 52) VNTR, were amplified by polymerase chain reaction (PCR) before analyses
by appropriate electrophoretic procedures. A total of 80 Thai hemophilia A families (48 with a
family history and 32 with a sporadic case), containing 349 DNA samples from 90 hemophilia A
patients, 143 parents, and 116 relatives, were analyzed. Heterozygosities in the patients' mothers
from both families with a family history and with a sporadic case were observed in 71 out of 80
families (88.75%) for all polymorphic DNA markers analyzed. The carrier status could be identified
in 36 females and excluded in 44 females. This result indicates that the DNA linkage analysis can
be used for carrier detection or exclusion in the majority of Thai hemophilia A families. It should
also be useful for prenatal diagnosis in families at risk of hemophilia A, which is part of the preven
tion and control of this disease.
Keywords : Hemophilia A, DNA Linkage Analysis, Carrier Detection, Factor VIII Gene
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