LitCoin-sentences  

PubMed:16288197 JSONTXT 29 Projects

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Id Subject Object Predicate Lexical cue
T1 0-89 Sentence denotes Genetic homogeneity for inherited congenital microcoria loci in an Asian Indian pedigree.
T2 90-98 Sentence denotes PURPOSE:
T3 99-241 Sentence denotes Congenital microcoria is a rare autosomal dominant developmental disorder of the iris associated with myopia and juvenile open angle glaucoma.
T4 242-339 Sentence denotes Linkage to the chromosomal locus 13q31-q32 has previously been reported in a large French family.
T5 340-562 Sentence denotes In the current study, a three generation Asian Indian family with 15 congenital microcoria (pupils with a diameter <2 mm) affected members was studied for linkage to candidate microsatellite markers at the 13q31-q32 locus.
T6 563-571 Sentence denotes METHODS:
T7 572-661 Sentence denotes Twenty-four members of the family were clinically examined and genomic DNA was extracted.
T8 662-803 Sentence denotes Microsatellite markers at 13q31-q32 were PCR amplified and run on an ABI Prism 310 genetic analyzer and genotyped with the GeneScan analysis.
T9 804-900 Sentence denotes Two point and multipoint linkage analyses were performed using the MLINK and SUPERLINK programs.
T10 901-909 Sentence denotes RESULTS:
T11 910-1032 Sentence denotes Peak two point LOD scores of 3.5, 4.7, and 5.3 were found co-incident with consecutive markers D13S154, DCT, and D13S1280.
T12 1033-1241 Sentence denotes Multipoint analysis revealed a 4 cM region encompassing D13S1300 to D13S1280 where the LOD remains just over 6.0 Thus we confirm localization of the congenital microcoria locus to chromosomal locus 13q31-q32.
T13 1242-1390 Sentence denotes In addition, eight individuals who had both microcoria and glaucoma were screened for glaucoma genes: myocilin (MYOC), optineurin (OPTN) and CYP1B1.
T14 1391-1619 Sentence denotes Using direct sequencing a point mutation (144 G>A) resulting in a Q48H substitution in exon 1 of the MYOC gene was observed in five of the eight glaucoma patients, but not in unaffected family members and 100 unrelated controls.
T15 1620-1632 Sentence denotes CONCLUSIONS:
T16 1633-1861 Sentence denotes We have confirmed the localization of the congenital microcoria locus (MCOR) to 13q31-q32 in a large Asian Indian family and conclude that current information suggests this is a single locus disorder and genetically homogeneous.
T17 1862-2005 Sentence denotes When combined with the initial linkage paper our haplotype and linkage data map the MCOR locus to a 6-7 cM region between D13S265 and D13S1280.
T18 2006-2105 Sentence denotes The DCT locus, a member of the tyrosinase family involved in pigmentation, maps within this region.
T19 2106-2372 Sentence denotes Data presented here supports the hypothesis that congenital microcoria is a potential risk factor for glaucoma, although this observation is complicated by the partial segregation of MYOC Q48H (1q24.3-q25.2), a mutation known to be associated with glaucoma in India.
T20 2373-2550 Sentence denotes Fine mapping and candidate gene analysis continues with the hope that characterizing the micocoria gene will lead to a better understanding of microcoria and glaucoma causation.
T21 2551-2653 Sentence denotes The relationship between microcoria, glaucoma, and the MYOC Q48H mutation in this family is discussed.