TY - JOUR
T1 - Linkage analysis in an Amish family with Leber congenital amaurosis
AU - Robitaille, J. M.
AU - Palincsar, L. K.
AU - Zhu, D.
AU - Maumenee Hussels, I. E.
PY - 1996/2/15
Y1 - 1996/2/15
N2 - Purpose. Leber congenital amaurosis (LCA) is an autosomal recessive retinal disorder associated with severe visual loss from birth. Camuzet et al mapped the disease in five Maghrebian families to a narrow region on chromosome 17p13. They were, however, unable to find significant linkage in their families of French ancestry. The purpose of this study was to evaluate a large inbred Amish family (24 participants) with three affected members (two siblings and a cousin) to identify the locus involved in LCA in this family. Methods. A whole genome screen was initiated starting with chromosome 17p. Results. A search in the same region as that reported for the Maghrebian families using two markers, D17S938 and D17S786, within a 2.9 cM area did not show linkage; two of the affected individuals were heterozygous for the first marker and all three were heterozygous for the second. Conclusions. No linkage was found for LCA in a small region of 17p13 in this Amish family. This result is not unexpected as Waardenburg reported a family with associative mating of two affected resulting in normal offspring, suggesting genetic heterogeneity.
AB - Purpose. Leber congenital amaurosis (LCA) is an autosomal recessive retinal disorder associated with severe visual loss from birth. Camuzet et al mapped the disease in five Maghrebian families to a narrow region on chromosome 17p13. They were, however, unable to find significant linkage in their families of French ancestry. The purpose of this study was to evaluate a large inbred Amish family (24 participants) with three affected members (two siblings and a cousin) to identify the locus involved in LCA in this family. Methods. A whole genome screen was initiated starting with chromosome 17p. Results. A search in the same region as that reported for the Maghrebian families using two markers, D17S938 and D17S786, within a 2.9 cM area did not show linkage; two of the affected individuals were heterozygous for the first marker and all three were heterozygous for the second. Conclusions. No linkage was found for LCA in a small region of 17p13 in this Amish family. This result is not unexpected as Waardenburg reported a family with associative mating of two affected resulting in normal offspring, suggesting genetic heterogeneity.
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M3 - Article
AN - SCOPUS:33750148699
SN - 0146-0404
VL - 37
SP - S998
JO - Investigative Ophthalmology and Visual Science
JF - Investigative Ophthalmology and Visual Science
IS - 3
ER -