Human Molecular Genetics, Vol 8, 667-671, Copyright © 1999 by Oxford University Press
YB Moglabey, R Kircheisen, M Seoud, N El Mogharbel, I Van den Veyver and R Slim
Hydatidiform mole (HM) is the product of an aberrant human pregnancy in
which there is an abnormal embryonic development and proliferation of
placental villi. The incidence of HM varies between ethnic groups, and
occurs in 1 in every 1500 pregnancies in the USA. All HM cases are
sporadic, except for extremely rare familial cases. The exact mechanisms
leading to molar pregnancies are unknown. We previously postulated that
women with recurrent hydatidiform moles are homozygous for an autosomal
recessive defective gene. To map this gene genetically, we initiated a
genome-wide scan with highly polymorphic short tandem repeats in
individuals from two families with recurrent HM. Here, we demonstrate that
a defective maternal gene is responsible for recurrent HM. This gene
resides on chromosome 19q13.3-13.4 in a 15.2 cM interval flanked by D19S924
and D19S890. The identification of a gene for HM adds new insights into the
molecular genetics of early embryogenesis and may be relevant to the large
number of patients with sporadic HM.
ARTICLES
Genetic mapping of a maternal locus responsible for familial hydatidiform moles
Department of Biochemistry, American University of Beirut, PO Box 11- 236, Beirut, Lebanon.
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