A new locus (GLC1H) for adult-onset primary open-angle glaucoma maps to the 2p15-p16 region.

نویسندگان

  • Sardha P Suriyapperuma
  • Anne Child
  • Trushna Desai
  • Glen Brice
  • Andrea Kerr
  • Ronald Pitts Crick
  • Mansoor Sarfarazi
چکیده

OBJECTIVE To map new genetic loci for adult-onset primary open-angle glaucoma (POAG) by using families previously unlinked to GLC1A-GLC1F. METHODS Initial genome scan and subsequent saturation mapping confirmed linkage to a locus on chromosome 2p15-p16. Forty-nine DNA samples from a single family with POAG with 113 individuals were used in this study. The 10 affected members of this family had an average age at onset of 64 years, moderate to high intraocular pressure, glaucomatous visual field loss, and cup-disc ratios of 0.6 to 0.9. RESULTS Haplotype construction in 9 available affected subjects established a single inherited chromosome from D2S123 to D2S2165, within an 11-megabase (Mb) region. Further analysis revealed no recombination with 8 consecutive DNA markers (D2S1364-D2S2332) and provided a maximum logarithm of the odds (LOD) score of 2.97 for D2S370. Six additional families also showed consistent linkage and 1 affected recombination may further confine this locus to an 8.3-Mb region (D2S2352-D2S2165). Combined analysis of 7 families provided a maximum LOD score of 9.30 with D2S2320. CONCLUSIONS A new genetic locus (GLC1H) for adult-onset POAG maps to the 2p15-p16 region. CLINICAL RELEVANCE Mapping of the GLC1H locus and eventual identification of its defective gene will help to develop diagnostic tools and effective treatments for this condition.

برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید

ثبت نام

اگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید

منابع مشابه

A genome-wide scan maps a novel autosomal dominant juvenile-onset open-angle glaucoma locus to 2p15-16

PURPOSE To study the clinical features and to perform genetic linkage study in two large Chinese families with autosomal dominant juvenile-onset primary open-angle glaucoma (POAG). METHODS Eighteen members of one Chinese family and 25 members of a second Chinese family with juvenile-onset primary open-angle glaucoma (POAG) were investigated. Thirteen members in one family and 14 members in th...

متن کامل

Analysis of an extended chromosome locus 2p14–21 for replication of the 2p16.3 association with glaucoma susceptibility

PURPOSE Susceptibility to primary open-angle glaucoma (POAG) has recently associated with three intergenic single-nucleotide polymorphisms (SNPs) on human chromosome 2p16.3, just outside of the POAG-linkage locus GLC1H (2p15-16.2), in an Afro-Caribbean population. Especially, association of one SNP (rs12994401) was very strong (odds ratio 35) and later replicated in Afro-Americans but not in Gh...

متن کامل

Exclusion of one pedigree affected by adult onset primary open angle glaucoma from linkage to the juvenile glaucoma locus on chromosome 1q21-q31.

A locus for autosomal dominant juvenile onset primary open angle glaucoma (POAG) was recently assigned to chromosome region 1q21-q31. In the present study, a large Greek family with autosomal dominant adult onset POAG was investigated using microsatellite markers. Exclusion of linkage of the adult onset POAG gene to the region D1S194-D1S191 was obtained in this pedigree. Therefore, the data pro...

متن کامل

Screening of CYP1B1 Arg368His as predominant mutation in North Indian primary open angle glaucoma and juvenile onset glaucoma patients

In India, mutations in Cytochrome P450 (CYP1B1) are a predominant cause of not only primary congenital glaucoma (PCG) but also involved in primary open angle glaucoma (POAG) and juvenile onset glaucoma (JOAG). After ethical clearance, 100 POAG patients, 30 primary angle closure glaucoma (PACG) patients and 130 ethnically matched controls were recruited in this study. Genomic DNA was is...

متن کامل

Age-dependent prevalence of mutations at the GLC1A locus in primary open-angle glaucoma.

PURPOSE To screen a population with primary open-angle glaucoma for mutations in the gene that encodes the trabecular meshwork inducible glucocorticoid response protein (TIGR), also known as myocilin (MYOC). METHODS Ophthalmologic information was collected for study subjects with primary open-angle glaucoma and their relatives. Mutation screening of 74 primary open-angle glaucoma probands was...

متن کامل

ذخیره در منابع من


  با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید

برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید

ثبت نام

اگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید

عنوان ژورنال:
  • Archives of ophthalmology

دوره 125 1  شماره 

صفحات  -

تاریخ انتشار 2007