Prenatal diagnosis of hemophilia involving grandpaternal mosaicism.
Our Factor VIII and RFLP analyses identified previously unreported grandpaternal hemophilia A mosaicism in a male who transmitted the disease allele to 2 of 4 daughters and 2 of 4 grandsons. An uncommon flanking polymorphic DXS52 allele cosegregated with this grandpaternal mutant allele. This and other reports of mosaic hemophilia A carriers indicate that parental mosaicism can explain unusual segregation of low Factor VIII activities and DNA polymorphisms in about 1% of hemophilia A pedigrees.
Lebo
R V
RV
Department of Obstetrics, Gynecology, and Reproductive Sciences, University of California, San Francisco 94143-0720.
Koerper
M A
MA
Kim
J H
JH
Chueh
J
J
Golbus
M S
MS
D004252:DNA Mutational Analysis; D005169:Factor VIII / Q000235:genetics*; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis* / Q000235:genetics; D006239:Haplotypes / Q000235:genetics; D006467:Hemophilia A / Q000175:diagnosis* / Q000196:embryology / Q000235:genetics; D006579:Heterozygote; D006801:Humans; D008297:Male; D009030:Mosaicism; D010375:Pedigree; D012150:Polymorphism, Restriction Fragment Length; D014841:von Willebrand Factor / Q000235:genetics
D014841:von Willebrand Factor; D005169:Factor VIII