Exclusion of AR-CHED from the chromosome 20 region containing the PPMD and AD-CHED loci

Ophthalmic Genetics

Volumn 20, Issue 4, 1999, Pages 243-249

  Kanis, Adam B ^a   Al Rajhi, Ali A ^b   Taylor, Christine M ^c   Mathers, William D ^c   Folberg, Robert ^c   Nishimura, Darryl Y ^a   Sheffield, Val C ^a,d   Stone, Edwin M ^c  

^a UNIVERSITY OF IOWA   (United States)

^b KING KHALED EYE SPECIALIST HOSPITAL   (Saudi Arabia)

^c UNIVERSITY OF IOWA HOSPITALS AND CLINICS   (United States)

^d UNIVERSITY OF IOWA   (United States)

Author keywords

Chromosome 20; Congenital heredity endothelial dystrophy; Linkage analysis

Indexed keywords

ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; AUTOSOMAL RECESSIVE INHERITANCE; CHROMOSOME 20; CHROMOSOME SEGREGATION; CLINICAL ARTICLE; COMPUTER PROGRAM; CONGENITAL CORNEA DYSTROPHY; CONSANGUINITY; CONTROLLED STUDY; CORNEA ENDOTHELIUM; FAMILY; GENETIC LINKAGE; GENETIC POLYMORPHISM; GENOTYPE; HUMAN; PHENOTYPE; PRIORITY JOURNAL; SAUDI ARABIA; TANDEM REPEAT;

EID: 0033375864     PISSN: 13816810     EISSN: None     Source Type: Journal    
DOI: 10.1076/opge.20.4.243.2273     Document Type: Article

References (17)

1. Maumenee AE. Congenital hereditary corneal dystrophy. Am J Ophthalmol 1960;50:1114-1124.
2. Arffa RC. Grayson's Diseases of the Cornea, 3rd ed. St. Louis: Mosby Year Book, 1991; 417-498.
3. Judisch GF, Maumenee IH. Clinical differentiation of recessive congenital hereditary endothelial dystrophy and dominant hereditary endothelial dystrophy. Am J Ophthalmol 1978;85:606-612.
4. Toma NM, Ebenezer ND, Inglehearn CF, et al. Linkage of congenital hereditary endothelial dystrophy to chromosome 20. Hum Mol Genet 1995;4:2395-2398.
5. Héon E, Mathers WD, Alward WL, et al. Linkage of posterior polymorphous corneal dystrophy to 20q11. Hum Mol Genet 1995;4:485-488.
6. McCartney AC, Kirkness CM. Comparison between posterior polymorphous dystrophy and congenital hereditary endothelial dystrophy of the cornea. Eye 1988;2:63-70.
7. Stone EM, Mathers WD, Rosenwasser GO, et al. Three autosomal dominant corneal dystrophies map to chromosome 5q. Nat Genet 1994;6:47-51.
8. Munier FL, Korvatska E, Djemai A, et al. Kerato-epithelin mutations in four 5q31-linked corneal dystrophies. Nat Genet 1997;15:247-251.
9. Yamamoto S, Okada M, Tsujikawa M, et al. A kerato-epithelin (betaig-h3) mutation in lattice corneal dystrophy type IIIA (letter). Am J Hum Genet 1998;62:719-722.
10. Grimberg J, Nawoschik S, Belluscio L, et al. A simple and efficient non-organic procedure for the isolation of genomic DNA from blood. Nucleic Acids Res 1989;17:8390.
11. Sunden SL, Businga T, Beck J, et al. Chromosomal assignment of 2900 tri-and tetranucleotide repeat markers using NIGMS somatic cell hybrid panel 2. Genomics 1996;32:15-20.
12. Bassam BJ, Caetano-Anolles G, Gresshoff PM. Fast and sensitive silver staining of DNA in polyacrylamide gels. Anal Biochem 1991;196:80-83. (Published erratum in Anal Biochem 1991;198(1):217).
13. Lange K, Weeks D, Boehnke M. Programs for pedigree analysis: MENDEL, FISHER, and dGENE (letter). Genet Epidemiol 1988;5:471-472.
14. Sheffield VC, Carmi R, Kwitek-Black A, et al. Identification of a Bardet-Biedl syndrome locus on chromosome 3 and evaluation of an efficient approach to homozygosity mapping. Hum Mol Genet 1994;3:1331-1335.
15. Nystuen A, Benke PJ, Merren J, Stone EM, Sheffield VC. A cerebellar ataxia locus identified by DNA pooling to search for linkage disequilibrium in an isolated population from the Cayman Islands. Hum Mol Genet 1996;5:525-531.
16. Arbour NC, Zlotogora J, Knowlton RG, et al. Homozygosity mapping of achromatopsia to chromosome 2 using DNA pooling. Hum Mol Genet 1997;6:689-694.
17. Callaghan M, Hand CK, Kennedy SM, et al. Homozygosity mapping and linkage analysis demonstrate that autosomal recessive congenital hereditary endothelial dystrophy (CHED) and autosomal dominant CHED are genetically distinct. Br J Ophthalmol 1999;83:115-119.