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Prenatal diagnosis of oculocutaneous albinism by tyrosinase gene analysis
Ott 30/Concurrent
Session II - Cell Biology/Gene Expression
37
161 Rockefeller University. UMDS Guy’s Hospital,
New York, NY, Lotion, U.K.
USA.
2. Div.
Med. & Mol. Genetics,
Fanconi anemia (FA) is a rare autosumal recessive disorder in the family of DNA repair disorders that include Bloom’s syndrome, ataxia telangiectasia, and xerudenua pigmentosum. FA is defined by the seusitivity of cells to the effects of DNA crosslittkiig agents such as diepoxybutane, and is clinically associated with a spectrum of congenital malformations that may include radial aplasia, hypetpigmentation, and shun statme, among others. FA patients eventually develop progressive pancytopaia and are predisposed to cancer, especially acute myelogenous leukemia. A cDNA has recently been cloned (FACCJ that corrects the crasslink sensitivity af FA complementation group C cell lines. We are using single strand confonuation polymorphism (SSCP) analysis tu screen genomic DNA from affected indivtduals for mutations in FACC. Individuals representing 174 families in the International Fancoui Anemia Registry (IFAR) are currently being screened, and six different bands with altered migration have been identified thus far m a total of 22 different families. Two of these shrfted bands appear tu represent polymorphisms rather than mutatious based on the segregation of the aberrant band in the five families in which they were found. The must recently identified aberrant band, in exun 4, has been found in ten of eleven Jewish families and in two other families. In each of these families! the affected individuals are homozygous for the band shift, while the unaffected utdividuals are either heterozygous or are homozygous for the normal band. The presence of this mutation in the Jewish population of the IFAR suggests a possible founder effect.
162
Session II - Cell Biology/Gene Expression
37
161 Rockefeller University. UMDS Guy’s Hospital,
New York, NY, Lotion, U.K.
USA.
2. Div.
Med. & Mol. Genetics,
Fanconi anemia (FA) is a rare autosumal recessive disorder in the family of DNA repair disorders that include Bloom’s syndrome, ataxia telangiectasia, and xerudenua pigmentosum. FA is defined by the seusitivity of cells to the effects of DNA crosslittkiig agents such as diepoxybutane, and is clinically associated with a spectrum of congenital malformations that may include radial aplasia, hypetpigmentation, and shun statme, among others. FA patients eventually develop progressive pancytopaia and are predisposed to cancer, especially acute myelogenous leukemia. A cDNA has recently been cloned (FACCJ that corrects the crasslink sensitivity af FA complementation group C cell lines. We are using single strand confonuation polymorphism (SSCP) analysis tu screen genomic DNA from affected indivtduals for mutations in FACC. Individuals representing 174 families in the International Fancoui Anemia Registry (IFAR) are currently being screened, and six different bands with altered migration have been identified thus far m a total of 22 different families. Two of these shrfted bands appear tu represent polymorphisms rather than mutatious based on the segregation of the aberrant band in the five families in which they were found. The must recently identified aberrant band, in exun 4, has been found in ten of eleven Jewish families and in two other families. In each of these families! the affected individuals are homozygous for the band shift, while the unaffected utdividuals are either heterozygous or are homozygous for the normal band. The presence of this mutation in the Jewish population of the IFAR suggests a possible founder effect.
162