Abstract:
:This article describes a multiplex allele-specific PCR (AS-PCR) approach for detection of an A to G mutation occurring in the human mitochondrial 12s RNA gene at nucleotide 1555. Possession of this mutation has been shown to be associated with irreversible hearing loss following administration of aminoglycoside antibiotics, and in some families is associated with profound sensorineural deafness in the absence of aminoglycoside antibiotics. We screened 206 unrelated individuals from the province of Otago, New Zealand, and found one who possessed the mitochondrial 1555 A to G mutation (0.48%; 95% confidence interval, 0.01-2.75).
journal_name
J Hum Genetjournal_title
Journal of human geneticsauthors
Scrimshaw BJ,Faed JM,Tate WP,Yun Kdoi
10.1007/s100380050184keywords:
subject
Has Abstractpub_date
1999-01-01 00:00:00pages
388-90issue
6eissn
1434-5161issn
1435-232Xjournal_volume
44pub_type
杂志文章abstract::To date, genome-wide meta-analyses have identified genetic susceptibility to type 2 diabetes mellitus (T2D) predominantly in populations of European ancestry. However, comprehensive genetic-risk assessment based on previous GWAS loci has not been fully tested in non-European populations. To evaluate whether a genetic-...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1038/jhg.2016.93
更新日期:2016-12-01 00:00:00
abstract::The differential transmission of alleles from parents to affected children indicates that the locus under investigation is either directly involved in the occurrence of the disease or that there are allelic associations with other loci that are directly involved. Conditional logistic regression applied to a diallelic ...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1007/s10038-004-0217-5
更新日期:2005-01-01 00:00:00
abstract::Osteoarthritis (OA) is a very common bone and joint disease characterized by breakdown of cartilage in the joint. We recently found that an aspartic-acid repeat polymorphism of the asporin gene (ASPN) on chromosome 9 is associated with susceptibility to OA in Japanese. We provide here a high-resolution single nucleoti...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1007/s10038-005-0337-6
更新日期:2006-01-01 00:00:00
abstract::During the past decade, the search for pathogenic mutations in rare human genetic diseases has involved huge efforts to sequence coding regions, or the entire genome, using massively parallel short-read sequencers. However, the approximate current diagnostic rate is <50% using these approaches, and there remain many r...
journal_title:Journal of human genetics
pub_type: 杂志文章,评审
doi:10.1038/s10038-019-0671-8
更新日期:2020-01-01 00:00:00
abstract::Mucopolysaccharidosis IVA (MPS IVA) is a degenerative systemic skeletal dysplasia, in which children exhibit marked short stature and become physically handicapped. This study evaluated the growth patterns of patients treated with enzyme replacement therapy (ERT), compared with those of untreated patients. Cross-secti...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1038/s10038-019-0604-6
更新日期:2019-07-01 00:00:00
abstract::Natural tooth loss represents a major medical issue within the elderly population, since it impairs masticatory function critical for oral intake of essential nutrition. Contribution of genetic factors has been implicated in the determination of natural tooth loss; degree of reduction in number of natural teeth remain...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1007/s10038-003-0024-4
更新日期:2003-01-01 00:00:00
abstract::Mutations in CDH1, which encodes E-cadherin, have been associated with hereditary diffuse gastric cancer (HDGC) in Western populations but have not been shown to play a major role in Asians. Recently, a patient with familial gastric cancer (FGC) was shown to harbor a germline mutation in the TP53 gene, which encodes p...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1007/s10038-004-0193-9
更新日期:2004-01-01 00:00:00
abstract::Using genome-editing technologies to correct specific mutations represents a potentially transformative new approach for treating genetic disorders. Despite rapid advances in the field of genome editing, it is still unclear whether the long-standing goal of in vivo targeted transgene integration is feasible. This is p...
journal_title:Journal of human genetics
pub_type: 杂志文章,评审
doi:10.1038/s10038-017-0352-4
更新日期:2018-02-01 00:00:00
abstract::Interstitial deletion of 7q11.23-q21.11 was identified by cytogenetic methods in a 4-year-old boy with Williams syndrome (WS) and infantile spasms. Deletion of the elastin (ELN) gene and the DNA polymorphic markers, D7S1870, D7S2490, D7S2518, and D7S2421, were identified in the patient, but the loci for D7S653 and D7S...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1007/s100380050064
更新日期:1998-01-01 00:00:00
abstract::Connective tissue growth factor (CTGF) has been implicated in the pathogenesis of diabetic nephropathy; however, to date there have been no reports of genomic analysis on this gene. The CTGF gene was comprehensively screened using WAVE (dHPLC) technology and direct capillary sequencing. Single nucleotide polymorphisms...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1007/s10038-006-0368-7
更新日期:2006-01-01 00:00:00
abstract::The prefrontal cortex has been implicated in schizophrenia (SZ) and affective disorders by gene expression studies. Owing to reciprocal connectivity, the thalamic nuclei and their cortical fields act as functional units. Altered thalamic gene expression would be expected to occur in association with cortical dysfuncti...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1038/jhg.2009.93
更新日期:2009-11-01 00:00:00
abstract::Genome-wide single nucleotide polymorphism (SNP) association studies recently identified four SNPs (rs10757274, rs2383206, rs2383207, and rs10757278) on chromosome 9p21 that were associated with coronary artery disease (CAD) and myocardial infarction (MI) in Caucasian populations from northern Europe and North America...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1007/s10038-007-0230-6
更新日期:2008-01-01 00:00:00
abstract::The neurofilament light chain polypeptide (NEFL) forms the major intermediate filament in neurons and axons. NEFL mutation is a cause of axonal or demyelinating forms of dominant Charcot-Marie-Tooth disease (CMT). We investigated NEFL in 223 Japanese CMT patients who were negative for PMP22, MPZ, GJB1, LITAF, EGR2, GD...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1038/jhg.2008.13
更新日期:2009-02-01 00:00:00
abstract::Adrenomedullin (ADM), a peptide characterized by persistent hypotensive activity, is thought to be involved when the control mechanism of blood pressure is deranged, because its plasma concentration is upregulated in hypertensive patients. The receptor for ADM, a molecular complex consisting of calcitonin-receptor-lik...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1007/s100380170100
更新日期:2001-01-01 00:00:00
abstract::IgE-mediated allergy is a common chronic disorder resulting from interactions between genetic and environmental factors. The gene encoding CD14 is a positional candidate gene for allergic diseases as it is localised on chromosome 5q31.1, a region linked to asthma and bronchial hyperresponsiveness. We investigated the ...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1007/s10038-006-0050-0
更新日期:2006-01-01 00:00:00
abstract::Lymphoblastoid cell lines (LCLs) have been by far the most prevalent cell type used to study the genetics underlying normal and disease-relevant human phenotypic variation, across personal to epidemiological scales. In contrast, only few studies have explored the use of LCLs in functional genomics and mechanistic stud...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1038/s10038-018-0483-2
更新日期:2018-09-01 00:00:00
abstract::Tuberous sclerosis (TS) is a rare autosomal-dominant genetic disease. TS is manifested by the development of multiple hamartomas, which affect brain, kidneys, retina, skin and other organs. This study aimed to reveal specific features of molecular epidemiology of TS in Russia. Blood DNA samples from 61 patients with d...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1038/s10038-018-0416-0
更新日期:2018-05-01 00:00:00
abstract::Plasma platelet-activating factor acetylhydrolase (PAF-AH) acts as a key defense against oxidative stress by hydrolyzing PAF and oxidized phospholipids. Deficiency of the activity of this enzyme may thus potentially result in predisposition to myocardial damage. The possible role of the G994 (V allele) --> T (F allele...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1007/s100380170042
更新日期:2001-01-01 00:00:00
abstract::An amendment to this paper has been published and can be accessed via a link at the top of the paper. ...
journal_title:Journal of human genetics
pub_type: 已发布勘误
doi:10.1038/s10038-020-00867-w
更新日期:2020-11-13 00:00:00
abstract::The mechanism of speciation has remained largely unresolved, and hominoid evolutionary history based on chromosome rearrangements has been continuously challenged. The recent availability of the human-derived chromosome 1-specific midisatellite (D1Z2) and chromosome X-specific macrosatellite (DXZ4) DNA sequence probes...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1007/s100380050108
更新日期:1999-01-01 00:00:00
abstract::CYP2C9 is the key enzyme in aromatic antiepileptic drugs (AEDs) metabolism. CYP2C9*3 is a loss of function polymorphism. This study was designed to investigate genetic association between CYP2C9*3 and aromatic AED-induced severe cutaneous adverse reactions (SCARs) in Thai children. The 37 aromatic AED-induced SCARs pa...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1038/jhg.2015.47
更新日期:2015-08-01 00:00:00
abstract::Hereditary motor and sensory neuropathy with proximal dominancy (HMSN-P) is an adult-onset peripheral neurodegenerative disorder which has been reported only in the Okinawa Islands, Japan. The disease locus of "Okinawa-type" HMSN-P has been previously mapped to 3q13.1, with all affected individuals sharing an identica...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1007/s10038-007-0193-7
更新日期:2007-01-01 00:00:00
abstract::Tissue factor (TF) is important for initiation of coagulation and for the increased thrombin activity observed at sites of inflammation. Thrombin activity is induced by allergen challenge in asthmatic airways and is involved in the pathogenesis of asthma. A -603A --> G polymorphism (rs1361600) in the promoter region o...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1038/jhg.2010.4
更新日期:2010-03-01 00:00:00
abstract::A few mutations in the gene encoding the gamma 2 subunit of the gamma-aminobutyric acid receptor type A (GABRG2) have been reported in various types of epilepsy. The aim of this study is to investigate the role of GABRG2 in the pathogenesis of childhood epilepsy in a large Japanese cohort. Genetic analysis of GABRG2 w...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1038/jhg.2010.47
更新日期:2010-06-01 00:00:00
abstract::When compared with single gene functional analysis, gene set analysis (GSA) can extract more information from gene expression profiles. Currently, several gene set methods have been proposed, but most of the methods cannot detect gene sets with a large number of minor-effect genes. Here, we propose a novel distance-ba...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1038/jhg.2012.86
更新日期:2012-10-01 00:00:00
abstract::Idiopathic pulmonary fibrosis (IPF) is a chronic, progressive lung disease that is refractory to treatment and carries a high mortality rate. IPF is frequently associated with lung cancer. Identification of molecular targets involved in both diseases may elucidate novel molecular mechanisms contributing to their patho...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1038/jhg.2016.99
更新日期:2016-12-01 00:00:00
abstract::ORAI1 encodes a calcium channel essential in the store-operated calcium entry mechanism. A previous genetic association study identified a rare in-frame insertion variant of ORAI1 conferring Kawasaki disease (KD). To deepen our understanding of the involvement of rare variants of ORAI1 in KD pathogenesis, we investiga...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1038/s10038-019-0588-2
更新日期:2019-06-01 00:00:00
abstract::Hypertension and brachydactyly syndrome (HTNB) with short stature is an autosomal-dominant disorder. Mutations in the PDE3A gene located at 12p12.2-p11.2 were recently identified in HTNB families. We found a novel heterozygous missense mutation c.1336T>C in exon 4 of the PDE3A gene in a Japanese family with multiple H...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1038/jhg.2016.32
更新日期:2016-08-01 00:00:00
abstract::Fragile X syndrome (FXS) is a neurodevelopmental disorder and a leading monogenic form of cognitive impairment and autism. It is the most common form of inherited mental retardation in males and a significant cause of mental retardation in females. It is caused by the instability and subsequent expansion of the CGG re...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1038/jhg.2010.140
更新日期:2011-01-01 00:00:00
abstract::Germline mutations of the EVER1/TMC6 gene are associated with epidermodysplasia verruciformis (EV), which is characterized by an abnormal susceptibility to human papillomaviruses that were considered to be innocuous for the general population. In this study, we have employed polymerase chain reaction and DNA sequencin...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1007/s10038-004-0135-6
更新日期:2004-01-01 00:00:00