当前位置： SCI文献检索 > AMERICAN JOURNAL OF HUMAN GENETICS期刊下所有文献 > The A1555G mutation in the 12S rRNA gene of human mtDNA: recurrent origins and founder events in families affected by sensorineural deafness.

The A1555G mutation in the 12S rRNA gene of human mtDNA: recurrent origins and founder events in families affected by sensorineural deafness.

Abstract：

:The mtDNA variation of 50 Spanish and 4 Cuban families affected by nonsyndromic sensorineural deafness due to the A1555G mutation in the 12S rRNA gene was studied by high-resolution RFLP analysis and sequencing of the control region. Phylogenetic analyses of haplotypes and detailed survey of population controls revealed that the A1555G mutation can be attributed to >/=30 independent mutational events among the 50 Spanish families and that it occurs on mtDNA haplogroups that are common in all European populations. This indicates that the relatively high detection rate of this mutation in Spain is not due to sampling biases or to a single major founder event. Moreover, the distribution of these mutational events on different haplogroups is compatible with a random occurrence of the A1555G mutation and tends to support the conclusion that mtDNA backgrounds do not play a significant role in the expression of the mutation. Overall, these findings appear to indicate that the rare detection of this mutation in other populations is most likely due to inadequacy in patient ascertainment and molecular screening. This probable lack of identification of the A1555G mutation in subjects affected by sensorineural hearing loss implies that their maternally related relatives are not benefiting from presymptomatic detection and information concerning their increased risk of ototoxicity due to aminoglycoside treatments.

journal_name

Am J Hum Genet

journal_title

American journal of human genetics

authors

Torroni A,Cruciani F,Rengo C,Sellitto D,López-Bigas N,Rabionet R,Govea N,López De Munain A,Sarduy M,Romero L,Villamar M,del Castillo I,Moreno F,Estivill X,Scozzari R

doi

10.1086/302642

subject

Has Abstract

pub_date

1999-11-01 00:00:00

pages

1349-58

issue

5

eissn

0002-9297

issn

1537-6605

pii

S0002-9297(07)62141-7

journal_volume

65

pub_type

杂志文章

相关文献

AMERICAN JOURNAL OF HUMAN GENETICS文献大全
  • De novo mutations in NALCN cause a syndrome characterized by congenital contractures of the limbs and face, hypotonia, and developmental delay.

    abstract：:Freeman-Sheldon syndrome, or distal arthrogryposis type 2A (DA2A), is an autosomal-dominant condition caused by mutations in MYH3 and characterized by multiple congenital contractures of the face and limbs and normal cognitive development. We identified a subset of five individuals who had been putatively diagnosed wi...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1016/j.ajhg.2015.01.003

    authors： Chong JX,McMillin MJ,Shively KM,Beck AE,Marvin CT,Armenteros JR,Buckingham KJ,Nkinsi NT,Boyle EA,Berry MN,Bocian M,Foulds N,Uzielli ML,Haldeman-Englert C,Hennekam RC,Kaplan P,Kline AD,Mercer CL,Nowaczyk MJ,Klein Was

    更新日期：2015-03-05 00:00:00

  • Multipoint linkage analysis in Menkes disease.

    abstract：:Linkage analyses were performed in 11 families with X-linked Menkes disease. In each family more than one affected patient had been diagnosed. Forty informative meioses were tested using 11 polymorphic DNA markers. From two-point linkage analyses high lod scores are seen for DXS146 (pTAK-8; maximal lod score 3.16 at r...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Tønnesen T,Petterson A,Kruse TA,Gerdes AM,Horn N

    更新日期：1992-05-01 00:00:00

  • Molecular and fluorescence in situ hybridization characterization of the breakpoints in 46 large supernumerary marker 15 chromosomes reveals an unexpected level of complexity.

    abstract：:Supernumerary marker chromosomes (SMCs) of chromosome 15, designated "SMC(15)s," are the most common SMC in humans, accounting for as much as 60% of all those observed. We report the characterization of 46 large SMC(15)s, using both fluorescence in situ hybridization and polymerase chain reaction analysis within and d...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1086/379155

    authors： Roberts SE,Maggouta F,Thomas NS,Jacobs PA,Crolla JA

    更新日期：2003-11-01 00:00:00

  • Exclusion of the APC gene as the cause of a variant form of familial adenomatous polyposis (FAP)

    abstract：:Familial adenomatous polyposis (FAP) is a premalignant disease inherited as an autosomal dominant trait, characterized by hundreds to thousands of polyps in the colorectal tract. Recently, the syndrome has been shown to be caused by mutations in the APC (adenomatous polyposis coli) gene located on chromosome 5q21. We ...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Stella A,Resta N,Gentile M,Susca F,Mareni C,Montera MP,Guanti G

    更新日期：1993-11-01 00:00:00

  • Large Intragenic Deletion in DSTYK Underlies Autosomal-Recessive Complicated Spastic Paraparesis, SPG23.

    abstract：:SPG23 is an autosomal-recessive neurodegenerative subtype of lower limb spastic paraparesis with additional diffuse skin and hair dyspigmentation at birth followed by further patchy pigment loss during childhood. Previously, genome-wide linkage in an Arab-Israeli pedigree mapped the gene to an approximately 25 cM locu...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1016/j.ajhg.2017.01.014

    authors： Lee JYW,Hsu CK,Michael M,Nanda A,Liu L,McMillan JR,Pourreyron C,Takeichi T,Tolar J,Reid E,Hayday T,Blumen SC,Abu-Mouch S,Straussberg R,Basel-Vanagaite L,Barhum Y,Zouabi Y,Al-Ajmi H,Huang HY,Lin TC,Akiyama M,Lee

    更新日期：2017-02-02 00:00:00

  • Neuropsychological endophenotype approach to genome-wide linkage analysis identifies susceptibility loci for ADHD on 2q21.1 and 13q12.11.

    abstract：:ADHD linkage findings have not all been consistently replicated, suggesting that other approaches to linkage analysis in ADHD might be necessary, such as the use of (quantitative) endophenotypes (heritable traits associated with an increased risk for ADHD). Genome-wide linkage analyses were performed in the Dutch subs...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1016/j.ajhg.2008.06.006

    authors： Rommelse NN,Arias-Vásquez A,Altink ME,Buschgens CJ,Fliers E,Asherson P,Faraone SV,Buitelaar JK,Sergeant JA,Oosterlaan J,Franke B

    更新日期：2008-07-01 00:00:00

  • BRCA2 T2722R is a deleterious allele that causes exon skipping.

    abstract：:Patients with a strong family history of breast cancer are often counseled to receive genetic screening for BRCA1 and BRCA2 mutations, the strongest known predictors of breast cancer. A major limitation of genetic testing is the number of inconclusive results due to unclassified BRCA1 and BRCA2 sequence variants. Many...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1086/342192

    authors： Fackenthal JD,Cartegni L,Krainer AR,Olopade OI

    更新日期：2002-09-01 00:00:00

  • Cystic fibrosis carrier population screening in the primary care setting.

    abstract：:To determine the receptivity of prenatal care providers and their patients to carrier testing for cystic fibrosis (CF), we offered free carrier screening, followed by genetic counseling of carriers, to all prenatal care providers in Rochester, NY, for all their female patients of reproductive age, pregnant or not. Of ...

    journal_title：American journal of human genetics

    pub_type： 临床试验,杂志文章

    doi：

    authors： Loader S,Caldwell P,Kozyra A,Levenkron JC,Boehm CD,Kazazian HH Jr,Rowley PT

    更新日期：1996-07-01 00:00:00

  • Abdominal aortic aneurysm is associated with a variant in low-density lipoprotein receptor-related protein 1.

    abstract：:Abdominal aortic aneurysm (AAA) is a common cause of morbidity and mortality and has a significant heritability. We carried out a genome-wide association discovery study of 1866 patients with AAA and 5435 controls and replication of promising signals (lead SNP with a p value < 1 × 10(-5)) in 2871 additional cases and ...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1016/j.ajhg.2011.10.002

    authors： Bown MJ,Jones GT,Harrison SC,Wright BJ,Bumpstead S,Baas AF,Gretarsdottir S,Badger SA,Bradley DT,Burnand K,Child AH,Clough RE,Cockerill G,Hafez H,Scott DJ,Futers S,Johnson A,Sohrabi S,Smith A,Thompson MM,van Bockxm

    更新日期：2011-11-11 00:00:00

  • A BLOC-1 mutation screen reveals that PLDN is mutated in Hermansky-Pudlak Syndrome type 9.

    abstract：:Hermansky-Pudlak Syndrome (HPS) is an autosomal-recessive condition characterized by oculocutaneous albinism and a bleeding diathesis due to absent platelet delta granules. HPS is a genetically heterogeneous disorder of intracellular vesicle biogenesis. We first screened all our patients with HPS-like symptoms for mut...

    journal_title：American journal of human genetics

    pub_type： 杂志文章,收录出版

    doi：10.1016/j.ajhg.2011.05.009

    authors： Cullinane AR,Curry JA,Carmona-Rivera C,Summers CG,Ciccone C,Cardillo ND,Dorward H,Hess RA,White JG,Adams D,Huizing M,Gahl WA

    更新日期：2011-06-10 00:00:00

  • Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies.

    abstract：:N-alpha-acetylation is a common co-translational protein modification that is essential for normal cell function in humans. We previously identified the genetic basis of an X-linked infantile lethal Mendelian disorder involving a c.109T>C (p.Ser37Pro) missense variant in NAA10, which encodes the catalytic subunit of t...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1016/j.ajhg.2018.03.004

    authors： Cheng H,Dharmadhikari AV,Varland S,Ma N,Domingo D,Kleyner R,Rope AF,Yoon M,Stray-Pedersen A,Posey JE,Crews SR,Eldomery MK,Akdemir ZC,Lewis AM,Sutton VR,Rosenfeld JA,Conboy E,Agre K,Xia F,Walkiewicz M,Longoni M,H

    更新日期：2018-05-03 00:00:00

  • Linkage of an autosomal dominant clefting syndrome (Van der Woude) to loci on chromosome Iq.

    abstract：:Van der Woude syndrome (VWS) is an autosomal dominant disorder in which affected individuals have one or more of the following manifestations: cleft lip, cleft palate, hypodontia, or paramedian lower-lip pits. VWS is a well-characterized example of a single-gene abnormality that disturbs normal craniofacial morphogene...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Murray JC,Nishimura DY,Buetow KH,Ardinger HH,Spence MA,Sparkes RS,Falk RE,Falk PM,Gardner RJ,Harkness EM

    更新日期：1990-03-01 00:00:00

  • Genome-wide association study identifies novel susceptibility loci for KIT D816V positive mastocytosis.

    abstract：:Mastocytosis is a rare myeloid neoplasm characterized by uncontrolled expansion of mast cells, driven in >80% of affected individuals by acquisition of the KIT D816V mutation. To explore the hypothesis that inherited variation predisposes to mastocytosis, we performed a two-stage genome-wide association study, analyzi...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1016/j.ajhg.2020.12.007

    authors： Galatà G,García-Montero AC,Kristensen T,Dawoud AAZ,Muñoz-González JI,Meggendorfer M,Guglielmelli P,Hoade Y,Alvarez-Twose I,Gieger C,Strauch K,Ferrucci L,Tanaka T,Bandinelli S,Schnurr TM,Haferlach T,Broesby-Olsen S,Veste

    更新日期：2021-01-04 00:00:00

  • Branching enzyme activity of cultured amniocytes and chorionic villi: prenatal testing for type IV glycogen storage disease.

    abstract：:Although type IV glycogen storage disease (Andersen disease; McKusick 23250) is considered to be a rare, autosomally recessive disorder, of the more than 600 patients with glycogenosis identified in our laboratory by enzymatic assays, 6% have been shown to be deficient in the glycogen branching enzyme. Most of the 38 ...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Brown BI,Brown DH

    更新日期：1989-03-01 00:00:00

  • Opitz G/BBB syndrome in Xp22: mutations in the MID1 gene cluster in the carboxy-terminal domain.

    abstract：:The MID1 gene in Xp22 codes for a novel member of proteins containing a RING finger, B-box, coiled-coil and a conserved C-terminal domain. Initially, three mutations in the C-terminal region were found in patients with Opitz G/BBB syndrome, a defect of midline development. Here we have determined the complete gene str...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1086/302010

    authors： Gaudenz K,Roessler E,Quaderi N,Franco B,Feldman G,Gasser DL,Wittwer B,Horst J,Montini E,Opitz JM,Ballabio A,Muenke M

    更新日期：1998-09-01 00:00:00

  • The apolipoprotein E/CI/CII gene cluster and late-onset Alzheimer disease.

    abstract：:The chromosome 19 apolipoprotein E/CI/CII gene cluster was examined for evidence of linkage to a familial Alzheimer disease (FAD) locus. The family groups studied were Volga German (VG), early-onset non-VG (ENVG; mean age at onset < 60 years), and late-onset families. A genetic association was observed between apolipo...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Yu CE,Payami H,Olson JM,Boehnke M,Wijsman EM,Orr HT,Kukull WA,Goddard KA,Nemens E,White JA

    更新日期：1994-04-01 00:00:00

  • Rare, low-frequency, and common variants in the protein-coding sequence of biological candidate genes from GWASs contribute to risk of rheumatoid arthritis.

    abstract：:The extent to which variants in the protein-coding sequence of genes contribute to risk of rheumatoid arthritis (RA) is unknown. In this study, we addressed this issue by deep exon sequencing and large-scale genotyping of 25 biological candidate genes located within RA risk loci discovered by genome-wide association s...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1016/j.ajhg.2012.11.012

    authors： Diogo D,Kurreeman F,Stahl EA,Liao KP,Gupta N,Greenberg JD,Rivas MA,Hickey B,Flannick J,Thomson B,Guiducci C,Ripke S,Adzhubey I,Barton A,Kremer JM,Alfredsson L,Consortium of Rheumatology Researchers of North America.,Rhe

    更新日期：2013-01-10 00:00:00

  • Exome sequencing identifies autosomal-dominant SRP72 mutations associated with familial aplasia and myelodysplasia.

    abstract：:Aplastic anemia (AA) and myelodysplasia (MDS) are forms of bone marrow failure that are often part of the same progressive underlying disorder. While most cases are simplex and idiopathic, some show a clear pattern of inheritance; therefore, elucidating the underlying genetic cause could lead to a greater understandin...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1016/j.ajhg.2012.03.020

    authors： Kirwan M,Walne AJ,Plagnol V,Velangi M,Ho A,Hossain U,Vulliamy T,Dokal I

    更新日期：2012-05-04 00:00:00

  • Biallelic Mutations in LRRC56, Encoding a Protein Associated with Intraflagellar Transport, Cause Mucociliary Clearance and Laterality Defects.

    abstract：:Primary defects in motile cilia result in dysfunction of the apparatus responsible for generating fluid flows. Defects in these mechanisms underlie disorders characterized by poor mucus clearance, resulting in susceptibility to chronic recurrent respiratory infections, often associated with infertility; laterality def...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1016/j.ajhg.2018.10.003

    authors： Bonnefoy S,Watson CM,Kernohan KD,Lemos M,Hutchinson S,Poulter JA,Crinnion LA,Berry I,Simmonds J,Vasudevan P,O'Callaghan C,Hirst RA,Rutman A,Huang L,Hartley T,Grynspan D,Moya E,Li C,Carr IM,Bonthron DT,Leroux M,C

    更新日期：2018-11-01 00:00:00

  • Filamin A is mutated in X-linked chronic idiopathic intestinal pseudo-obstruction with central nervous system involvement.

    abstract：:We have previously reported that an X-linked recessive form of chronic idiopathic intestinal pseudo-obstruction (CIIPX) maps to Xq28. To select candidate genes for the disease, we analyzed the expression in murine fetal brain and intestine of 56 genes from the critical region. We selected and sequenced seven genes and...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1086/513321

    authors： Gargiulo A,Auricchio R,Barone MV,Cotugno G,Reardon W,Milla PJ,Ballabio A,Ciccodicola A,Auricchio A

    更新日期：2007-04-01 00:00:00

  • Evidence for "deleted" or "silent" genes homozygous at the locus coding for the constant region of the gamma3 chain.

    abstract：:Three uncommon stable Gm haplotypes, Gm3;23;--, Gm1,2,17;..;-- and Gm1,17;..;-- have been transmitted through 3 generations of two related Lebanese and Syrian families. No pathological consequence was noted in seven individuals, aged 14--65, whose sera were deficient for all the allotypes carried by the IgG3 chains. A...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Lefranc G,Rivat L,Rivat C,Loiselet J,Ropartz C

    更新日期：1976-01-01 00:00:00

  • Protein tyrosine phosphatase PTPN14 is a regulator of lymphatic function and choanal development in humans.

    abstract：:The lymphatic vasculature is essential for the recirculation of extracellular fluid, fat absorption, and immune function and as a route of tumor metastasis. The dissection of molecular mechanisms underlying lymphangiogenesis has been accelerated by the identification of tissue-specific lymphatic endothelial markers an...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1016/j.ajhg.2010.08.008

    authors： Au AC,Hernandez PA,Lieber E,Nadroo AM,Shen YM,Kelley KA,Gelb BD,Diaz GA

    更新日期：2010-09-10 00:00:00

  • Mutation of the variant alpha-tubulin TUBA8 results in polymicrogyria with optic nerve hypoplasia.

    abstract：:The critical importance of cytoskeletal function for correct neuronal migration during development of the cerebral cortex has been underscored by the identities of germline mutations underlying a number of human neurodevelopmental disorders. The proteins affected include TUBA1A, a major alpha-tubulin isoform, and micr...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1016/j.ajhg.2009.10.007

    authors： Abdollahi MR,Morrison E,Sirey T,Molnar Z,Hayward BE,Carr IM,Springell K,Woods CG,Ahmed M,Hattingh L,Corry P,Pilz DT,Stoodley N,Crow Y,Taylor GR,Bonthron DT,Sheridan E

    更新日期：2009-11-01 00:00:00

  • Mutations in NPC1 highlight a conserved NPC1-specific cysteine-rich domain.

    abstract：:Niemann-Pick type II disease is an autosomal recessive disorder characterized by a defect in intracellular trafficking of sterols. We have determined the intron/exon boundaries of eight exons from the conserved 3' portion of NPC1, the gene associated with most cases of the disease. SSCP analyses were designed for thes...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1086/302620

    authors： Greer WL,Dobson MJ,Girouard GS,Byers DM,Riddell DC,Neumann PE

    更新日期：1999-11-01 00:00:00

  • Prenatal screening for hemoglobinopathies. I. A prospective regional trial.

    abstract：:Prenatal hemoglobinopathy screening was chosen as a model system for the study of patient receptivity to unsolicited genetic information. Providers of prenatal care in Rochester, NY, were offered free testing of all their prenatal patients and genetic counseling of women found positive. The 18,907 prenatal samples tes...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Rowley PT,Loader S,Sutera CJ,Walden M,Kozyra A

    更新日期：1991-03-01 00:00:00

  • Length heteroplasmy in the first hypervariable segment of the human mtDNA control region.

    abstract：:The first hypervariable segment of the human mtDNA control region contains a homopolymeric tract of cytosines between nt 16184 and 16193, interrupted at position 16189 by a thymine, according to the Cambridge reference sequence. A variant commonly found in population screening is a T-to-C transition at nt 16189, resul...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Bendall KE,Sykes BC

    更新日期：1995-08-01 00:00:00

  • Ovaries and female phenotype in a girl with 46,XY karyotype and mutations in the CBX2 gene.

    abstract：:A girl with a prenatal 46,XY karyotype was born with a completely normal female phenotype, including uterus and histologically normal ovaries. In mice with a similar phenotype, the ablation of M33, an ortholog of Drosophila Polycomb, causes male-to-female sex reversal. The analysis of the human homolog of M33, Chromob...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1016/j.ajhg.2009.03.016

    authors： Biason-Lauber A,Konrad D,Meyer M,DeBeaufort C,Schoenle EJ

    更新日期：2009-05-01 00:00:00

  • Common Genetic Variants Modulate the Electrocardiographic Tpeak-to-Tend Interval.

    abstract：:Sudden cardiac death is responsible for half of all deaths from cardiovascular disease. The analysis of the electrophysiological substrate for arrhythmias is crucial for optimal risk stratification. A prolonged T-peak-to-Tend (Tpe) interval on the electrocardiogram is an independent predictor of increased arrhythmic r...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1016/j.ajhg.2020.04.009

    authors： Ramírez J,van Duijvenboden S,Young WJ,Orini M,Lambiase PD,Munroe PB,Tinker A

    更新日期：2020-06-04 00:00:00

  • RP2 and RPGR mutations and clinical correlations in patients with X-linked retinitis pigmentosa.

    abstract：:We determined the mutation spectrum of the RP2 and RPGR genes in patients with X-linked retinitis pigmentosa (XLRP) and searched for correlations between categories of mutation and severity of disease. We screened 187 unrelated male patients for mutations, including 135 with a prior clinical diagnosis of XLRP, 11 with...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1086/379379

    authors： Sharon D,Sandberg MA,Rabe VW,Stillberger M,Dryja TP,Berson EL

    更新日期：2003-11-01 00:00:00

  • Deletions and point mutations of LRRC50 cause primary ciliary dyskinesia due to dynein arm defects.

    abstract：:Genetic defects affecting motility of cilia and flagella cause chronic destructive airway disease, randomization of left-right body asymmetry, and, frequently, male infertility in primary ciliary dyskinesia (PCD). The most frequent defects involve outer and inner dynein arms (ODAs and IDAs) that are large multiprotein...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1016/j.ajhg.2009.10.018

    authors： Loges NT,Olbrich H,Becker-Heck A,Häffner K,Heer A,Reinhard C,Schmidts M,Kispert A,Zariwala MA,Leigh MW,Knowles MR,Zentgraf H,Seithe H,Nürnberg G,Nürnberg P,Reinhardt R,Omran H

    更新日期：2009-12-01 00:00:00