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Locus for autosomal recessive nonsyndromic persistent hyperplastic primary vitreous

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Abstract
PURPOSE. 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.
Keywords
MAPS, DISEASE, RGR, GENE, MUTATIONS, LOCALIZATION, JACKSON-MEMORIAL-LECTURE

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Chicago
Khaliq, Shagufta, Abdul Hameed, Muhammad Ismail, Khalid Anwar, Bart Leroy, Annette M Payne, Shomi S Bhattachyara, and S Qasim Mehdi. 2001. “Locus for Autosomal Recessive Nonsyndromic Persistent Hyperplastic Primary Vitreous.” Investigative Ophthalmology & Visual Science 42 (10): 2225–2228.
APA
Khaliq, S., Hameed, A., Ismail, M., Anwar, K., Leroy, B., Payne, A. M., Bhattachyara, S. S., et al. (2001). Locus for autosomal recessive nonsyndromic persistent hyperplastic primary vitreous. INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 42(10), 2225–2228.
Vancouver
1.
Khaliq S, Hameed A, Ismail M, Anwar K, Leroy B, Payne AM, et al. Locus for autosomal recessive nonsyndromic persistent hyperplastic primary vitreous. INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE. 2001;42(10):2225–8.
MLA
Khaliq, Shagufta, Abdul Hameed, Muhammad Ismail, et al. “Locus for Autosomal Recessive Nonsyndromic Persistent Hyperplastic Primary Vitreous.” INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE 42.10 (2001): 2225–2228. Print.
@article{142737,
  abstract     = {PURPOSE. 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.},
  author       = {Khaliq, Shagufta and Hameed, Abdul and Ismail, Muhammad and Anwar, Khalid and Leroy, Bart and Payne, Annette M and Bhattachyara, Shomi S and Mehdi, S Qasim},
  issn         = {0146-0404},
  journal      = {INVESTIGATIVE OPHTHALMOLOGY \& VISUAL SCIENCE},
  keyword      = {MAPS,DISEASE,RGR,GENE,MUTATIONS,LOCALIZATION,JACKSON-MEMORIAL-LECTURE},
  language     = {eng},
  number       = {10},
  pages        = {2225--2228},
  title        = {Locus for autosomal recessive nonsyndromic persistent hyperplastic primary vitreous},
  url          = {http://www.iovs.org/content/42/10/2225},
  volume       = {42},
  year         = {2001},
}

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