PMID- 10209448
OWN - NLM
STAT- MEDLINE
DCOM- 19990427
LR  - 20190501
IS  - 0007-1161 (Print)
IS  - 0007-1161 (Linking)
VI  - 83
IP  - 1
DP  - 1999 Jan
TI  - Homozygosity mapping and linkage analysis demonstrate that autosomal recessive
      congenital hereditary endothelial dystrophy (CHED) and autosomal dominant CHED
      are genetically distinct.
PG  - 115-9
AB  - BACKGROUND: Congenital hereditary endothelial dystrophy (CHED) is a corneal
      dystrophy characterised by diffuse bilateral corneal clouding resulting in
      impaired vision. It is inherited in either an autosomal dominant (AD) or
      autosomal recessive (AR) manner. The AD form of CHED has been mapped to the
      pericentromeric region of chromosome 20. Another endothelial dystrophy, posterior
      polymorphous dystrophy (PPM), has been linked to a larger but overlapping region 
      on chromosome 20. A large, Irish, consanguineous family with AR CHED was
      investigated to determine if there was linkage to this region. METHODS: The
      technique of linkage analysis with polymorphic microsatellite markers amplified
      by polymerase chain reaction (PCR) was used. In addition, a DNA pooling approach 
      to homozygosity mapping was employed to demonstrate the efficiency of this
      method. RESULTS: Conventional genetic analysis in addition to a pooled DNA
      strategy excludes linkage of AR CHED to the AD CHED and larger PPMD loci.
      CONCLUSION: This demonstrates that AR CHED is genetically distinct from AD CHED
      and PPMD.
FAU - Callaghan, M
AU  - Callaghan M
AD  - Department of Pathology, University College Dublin, Ireland.
FAU - Hand, C K
AU  - Hand CK
FAU - Kennedy, S M
AU  - Kennedy SM
FAU - FitzSimon, J S
AU  - FitzSimon JS
FAU - Collum, L M
AU  - Collum LM
FAU - Parfrey, N A
AU  - Parfrey NA
LA  - eng
PT  - Journal Article
PL  - England
TA  - Br J Ophthalmol
JT  - The British journal of ophthalmology
JID - 0421041
SB  - IM
MH  - Chromosome Mapping
MH  - Corneal Dystrophies, Hereditary/*genetics
MH  - Female
MH  - *Homozygote
MH  - Humans
MH  - Male
MH  - Microsatellite Repeats
MH  - Pedigree
MH  - Polymorphism, Genetic
PMC - PMC1722772
EDAT- 1999/04/21 00:00
MHDA- 1999/04/21 00:01
CRDT- 1999/04/21 00:00
PHST- 1999/04/21 00:00 [pubmed]
PHST- 1999/04/21 00:01 [medline]
PHST- 1999/04/21 00:00 [entrez]
AID - 10.1136/bjo.83.1.115 [doi]
PST - ppublish
SO  - Br J Ophthalmol. 1999 Jan;83(1):115-9. doi: 10.1136/bjo.83.1.115.