Abstract：
BACKGROUND:Ocular albinism type 1 (OA1) is an X-linked ocular disorder characterized by a severe reduction in visual acuity, nystagmus, hypopigmentation of the retinal pigmented epithelium, foveal hypoplasia, macromelanosomes in pigmented skin and eye cells, and misrouting of the optical tracts. This disease is primarily caused by mutations in the OA1 gene. METHODS:The ophthalmologic phenotype of the patients and their family members was characterized. We screened for mutations in the OA1 gene by direct sequencing of the nine PCR-amplified exons, and for genomic deletions by PCR-amplification of large DNA fragments. RESULTS:We sequenced the nine exons of the OA1 gene in 72 individuals and found ten different mutations in seven unrelated families and three sporadic cases. The ten mutations include an amino acid substitution and a premature stop codon previously reported by our team, and eight previously unidentified mutations: three amino acid substitutions, a duplication, a deletion, an insertion and two splice-site mutations. The use of a novel Taq polymerase enabled us to amplify large genomic fragments covering the OA1 gene. and to detect very likely six distinct large deletions. Furthermore, we were able to confirm that there was no deletion in twenty one patients where no mutation had been found. CONCLUSION:The identified mutations affect highly conserved amino acids, cause frameshifts or alternative splicing, thus affecting folding of the OA1 G protein coupled receptor, interactions of OA1 with its G protein and/or binding with its ligand.
journal_name
BMC Med Genetjournal_title
BMC medical geneticsauthors
Mayeur H,Roche O,Vêtu C,Jaliffa C,Marchant D,Dollfus H,Bonneau D,Munier FL,Schorderet DF,Levin AV,Héon E,Sutherland J,Lacombe D,Said E,Mezer E,Kaplan J,Dufier JL,Marsac C,Menasche M,Abitbol Mdoi
10.1186/1471-2350-7-41subject
Has Abstractpub_date
2006-04-28 00:00:00pages
41issn
1471-2350pii
1471-2350-7-41journal_volume
7pub_type
杂志文章abstract：BACKGROUND:The goal of this study was to review relevant case-control studies to determine the association of tumor necrosis factor-α (TNF-α) gene polymorphisms and coronary artery disease (CAD) susceptibility. METHODS:Using appropriate keywords, we identified relevant studies using PubMed, Cochrane, Embase, CNKI, VAN...
journal_title：BMC medical genetics
pub_type： 杂志文章,meta分析
doi：10.1186/s12881-020-0952-2
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abstract：BACKGROUND:RET is the major gene associated to Hirschsprung disease (HSCR) with differential contributions of its rare and common, coding and noncoding mutations to the multifactorial nature of this pathology. In the present study, we have performed a comprehensive study of our HSCR series evaluating the involvement of...
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abstract：BACKGROUND:Urolithiasis is a worldwide urological problem with significant contribution of genetic factors. Pakistan, which resides within the Afro-Asian stone belt, has a high reported prevalence (12%) of urolithiasis. Osteopontin (SPP1) is a urinary macromolecule with a suggested critical role in modulating renal sto...
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abstract：BACKGROUND:FANCM and RECQL have recently been reported as breast cancer susceptibility genes and it has been suggested that they should be included on gene panel tests for breast cancer predisposition. However, the clinical value of testing for mutations in RECQL and FANCM remains to be determined. In this study, we ha...
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journal_title：BMC medical genetics
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更新日期：2009-07-17 00:00:00
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journal_title：BMC medical genetics
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abstract：BACKGROUND:Asthma genetics has been extensively studied and many genes have been associated with the development or severity of this disease. In contrast, the genetic basis of allergic rhinitis (AR) has not been evaluated as extensively. It is well known that asthma is closely related with AR since a large proportion o...
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更新日期：2019-05-22 00:00:00
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journal_title：BMC medical genetics
pub_type： 杂志文章
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pub_type： 杂志文章,meta分析
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更新日期：2019-01-17 00:00:00
