Preimplantation genetic diagnosis in Marfan syndrome.
The in vitro fertilization technology coupled with the ability to amplify DNA from a single cell has been used for the preimplantation genetic diagnosis of Marfan syndrome. An intragenic FBN1 gene marker has been used to track the inheritance of this disorder in a family. Marker genotyping was established following two rounds of amplification. Whenever possible, two blastomeres were separately assayed per embryo. The transfer of five embryos resulted in a singleton pregnancy and the birth of a full-term male infant.
Kilpatrick
M W
MW
Department of Pediatrics, University of Connecticut Health Center, Farmington 06030, USA.
Harton
G L
GL
Phylactou
L A
LA
Levinson
G
G
Fugger
E F
EF
Schulman
J D
JD
Black
S H
SH
Tsipouras
P
P
D001757:Blastomeres / Q000737:chemistry; D004247:DNA / Q000032:analysis; D047108:Embryonic Development; D016326:Extracellular Matrix Proteins; D005260:Female; D005307:Fertilization in Vitro; D000071838:Fibrillin-1; D000071837:Fibrillins; D005838:Genotype; D006239:Haplotypes; D006801:Humans; D008297:Male; D008382:Marfan Syndrome / Q000175:diagnosis* / Q000235:genetics*; D008840:Microfilament Proteins / Q000235:genetics; D016133:Polymerase Chain Reaction; D011247:Pregnancy; D011296:Prenatal Diagnosis; D054392:Adipokines
D004247:DNA; D016326:Extracellular Matrix Proteins; D000071838:Fibrillin-1; D000071837:Fibrillins; D008840:Microfilament Proteins; C000605722:FBN1 protein, human; D054392:Adipokines