A YAC contig spanning the blepharophimosis-ptosis-epicanthus inversus syndrome and propionic acidemia loci

European Journal of Human Genetics

Volumn 5, Issue 3, 1997, Pages 171-174

  Piemontese, Maria Rosaria ^a   Memeo, Elena ^a   Carella, Massimo ^a   Mati, Patrizia A ^b   Chomel, Jean Claude ^b   Bonneau, Dominique ^b   Pilia, Giuseppe ^c   Cao, Antonio ^c   Drabkin, Harry ^d   Gemmill, Robert ^d   Rommens, Johanna ^e   Zelante, Leopoldo ^a   Gasparini, Paolo ^a   Bisceglia, Luigi ^a  

^a CASA SOLLIEVO DELLA SOFFERENZA HOSPITAL   (Italy)

^b POITIERS UNIVERSITY HOSPITAL   (France)

^c UNIVERSITY OF CAGLIARI   (Italy)

^d UNIVERSITY OF COLORADO SCHOOL OF MEDICINE   (United States)

^e UNIVERSITY OF TORONTO   (Canada)

Author keywords

Blepharophimosis ptosis epicanthus locus; Propionic acidemia locus; YAC contig

Indexed keywords

CONTIG; PROPIONYL COENZYME A CARBOXYLASE;

ARTICLE; BLEPHAROPHIMOSIS; CENTROMERE; CHROMOSOME 3Q; EPICANTHUS; EYELID DISEASE; FEMALE INFERTILITY; FLUORESCENCE IN SITU HYBRIDIZATION; GENE LOCUS; HUMAN; PALPEBRAL FISSURE ANOMALY; PRIORITY JOURNAL; PROPIONIC ACIDEMIA; PTOSIS; TELOMERE; YEAST ARTIFICIAL CHROMOSOME;

EID: 12644293812     PISSN: 10184813     EISSN: None     Source Type: Journal    
DOI: 10.1159/000484754     Document Type: Article

References (11)

1. McKusic VA: Blepharophimosis; in Mendelian Inheritance in Man, ed 10. Baltimore, Johns Hopkins University Press, 1992.
2. Small KW, Stalvey M, Fisher L, Mullen I, Dickl C, Beadles K, Reimer R, Lessner A, Lewis K; Pericak-Vance M: Blepharophimosis syndrome is linked to chromosome 3q. Hum Mol Genet 1994;54:844-851.
3. Amati P, Chomel JC, Nivelon-Chevalier A, Gilgenkrantz S, Kitzis A, Kaplan J, Bonneau D: A gene for blepharophimosis, ptosis, epicanthus inversus maps to chromosome 3q23. Hum Genet 1995;96:213-215.
4. Lawson C, Toomes C, Fryer A, Carette M, Taylor G, Fukushima Y, Dixon M: Definition of the blepharophimosis, ptosis, epicanthus inversus syndrome critical region at chromosome 3q23 based on the analysis of chromosomal anomalies. Hum Mol Genet 1995;4:963-967.
5. Messiaen L, Leroy B, De Bie S, De Pauw K, Van Roy N, Speleman F, Van Camp G, De Paepe A: Refined genetic and physical mapping of BPES type II. Eur J Hum Genet 1996;4: 34-38.
6. Amati P, Gasparini P, Zlotogora J, Zelante L, Chomel JC, Kitzis A, Kaplan J, Bonneau D: A gene for premature ovarian failure associated with eyelid malformations maps to chromosomes 3q22-q23. Am J Hum Genet 1996;58: 1089-1092.
7. Schuler GD, Boguski MS, Hudson TJ, et al: The human gene map. Science 1996;274:540-546.
8. Banfi S, Borsani G, Rossi E, Bernard L, Guffanti A, Rubboli F, Marchitiello A, Giglio C, Coluccia E, Zollo M, Zuffardi O, Ballabio A: Identification and mapping of human cDNAs homologous to Drosophila mutant genes through EST database searching. Nature Genet 1996;13:167-174.
9. Totaro A, Grifa A, Roetto A, Lunardi C, D'Agruma L, Sbaiz L, Zelante L, De Sandre G, Camaschella C, Gasparini P: New polymorphisms and markers in the HLA class I region: Relevance to hereditary hemochromatosis. Hum Genet 1995;95:429-434.
10. Lamhouwah AM, Borankiewicz TJ, Willard HF, Mahuran DS, Gram F, Gravel RA: Isolation of cDNA clones coding for the alpha and beta chains of human propionyl-CoA carboxylase: Chromosomal assignments and DNA polymorphisms associated with PCCA and PCCB genes. Proc Natl Acad Sci USA 1986;83: 4864-4868.
11. Dib C, Faure S, Fizames C, Samson D, Drouot N, Vignal P, Millasseau P, Marc S, Hazan J, Seboun E, Lathrop M, Gyapay G, Morisette J, Weissenbach J: A comprehensive genetic map of the human genome based on 5,264 microsatellites. Nature 1996;380:152-154.