Locus for autosomal recessive nonsyndromic persistent hyperplastic primary vitreous.
OBJECTIVE
To map the disease locus in a six-generation, consanguineous Pakistani family affected by nonsyndromic autosomal recessive persistent hyperplastic primary vitreous (arPHPV). All affected individuals had peripheral anterior synechiae and corneal opacities with variable degrees of cataract and a retrolenticular white mass behind the lens.


METHODS
Genomic DNA from family members was typed for alleles at more than 400 known polymorphic genetic markers, by polymerase chain reaction. Alleles were assigned to individuals, which allowed calculation of lod scores.


RESULTS
A maximum two-point lod score of 4.07 was obtained with marker D10S1225 with no recombination. Two recombinations with marker D10S208 and D10S537 localized the disease within a region of approximately 30 centimorgans (cM). However, homozygosity across the region refined the arPHPV locus to 13 cM.


CONCLUSIONS
Linkage analysis shows localization of nonsyndromic arPHPV to chromosome10q11-q21.
Khaliq
S
S
Dr. A. Q. Khan Research Laboratories, Biomedical and Genetic Engineering Division, Islamabad, Pakistan. sqmehdi@isb.comsats.net.pk
Hameed
A
A
Ismail
M
M
Anwar
K
K
Leroy
B
B
Payne
A M
AM
Bhattacharya
S S
SS
Mehdi
S Q
SQ
D000293:Adolescent; D000328:Adult; D000869:Anterior Eye Segment / Q000002:abnormalities; D002386:Cataract / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D002874:Chromosome Mapping; D002879:Chromosomes, Human, Pair 10 / Q000235:genetics*; D003241:Consanguinity; D003318:Corneal Opacity / Q000235:genetics*; D004247:DNA / Q000032:analysis; D005124:Eye Abnormalities / Q000235:genetics*; D005260:Female; D005808:Genes, Recessive; D008040:Genetic Linkage; D006801:Humans; D006965:Hyperplasia; D008126:Lod Score; D008297:Male; D008850:Microphthalmos / Q000235:genetics*; D018895:Microsatellite Repeats; D010375:Pedigree; D016133:Polymerase Chain Reaction; D014822:Vitreous Body / Q000002:abnormalities* / Q000473:pathology
D004247:DNA