Two families from New England with usher syndrome type IC with distinct haplotypes.
Am J Ophthalmol
; 131(3): 355-8, 2001 Mar.
Article
in En
| MEDLINE
| ID: mdl-11239869
PURPOSE: To search for patients with Usher syndrome type IC among those with Usher syndrome type I who reside in New England. METHODS: Genotype analysis of microsatellite markers closely linked to the USH1C locus was done using the polymerase chain reaction. We compared the haplotype of our patients who were homozygous in the USH1C region with the haplotypes found in previously reported USH1C Acadian families who reside in southwestern Louisiana and from a single family residing in Lebanon. RESULTS: Of 46 unrelated cases of Usher syndrome type I residing in New England, two were homozygous at genetic markers in the USH1C region. Of these, one carried the Acadian USH1C haplotype and had Acadian ancestors (that is, from Nova Scotia) who did not participate in the 1755 migration of Acadians to Louisiana. The second family had a haplotype that proved to be the same as that of a family with USH1C residing in Lebanon. Each of the two families had haplotypes distinct from the other. CONCLUSION: This is the first report that some patients residing in New England have Usher syndrome type IC. Patients with Usher syndrome type IC can have the Acadian haplotype or the Lebanese haplotype compatible with the idea that at least two independently arising pathogenic mutations have occurred in the yet-to-be identified USH1C gene.
Search on Google
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Haplotypes
/
Carrier Proteins
/
Retinitis Pigmentosa
/
Deafness
Limits:
Female
/
Humans
/
Male
Country/Region as subject:
America do norte
Language:
En
Journal:
Am J Ophthalmol
Year:
2001
Document type:
Article
Affiliation country:
Estados Unidos
Country of publication:
Estados Unidos