Abstract:
:Mutations in mitochondrial DNA (mtDNA) have been found to be associated with sensorineural hearing loss. We report here a systematic mutational screening of the mitochondrial 12S rRNA gene in 128 Chinese pediatric subjects with sporadic aminoglycoside-induced and non-syndromic hearing loss. We show that aminoglycoside ototoxicity accounts for 48% of cases of hearing loss in this Chinese pediatric population. Of the known deafness-associated mutations in this gene, the incidence of the A1555G mutation is approximately 13% and approximately 2.9% in this Chinese pediatric population with aminoglycoside-induced and non-syndromic hearing loss, respectively. Furthermore, mutations at position 961 in the 12S rRNA gene account for approximately 1.7% and 4.4% of cases of aminoglycoside-induced and non-syndromic hearing loss in this Chinese clinical population, respectively. The T1095C mutation has been identified in one maternally inherited family with aminoglycoside-induced and non-syndromic hearing loss. However, the C1494T mutation was not detected in this clinical population. In addition, three variants, A827G, T1005C and A1116G, in the 12S rRNA gene, localized at highly conserved sites, may play a role in the pathogenesis of aminoglycoside ototoxicity. These data strongly suggest that the mitochondrial 12S rRNA is a hot-spot for deafness-associated mutations in the Chinese population.
journal_name
Hum Genetjournal_title
Human geneticsauthors
Li Z,Li R,Chen J,Liao Z,Zhu Y,Qian Y,Xiong S,Heman-Ackah S,Wu J,Choo DI,Guan MXdoi
10.1007/s00439-005-1276-1keywords:
subject
Has Abstractpub_date
2005-06-01 00:00:00pages
9-15issue
1eissn
0340-6717issn
1432-1203journal_volume
117pub_type
杂志文章相关文献
HUMAN GENETICS文献大全abstract::Many recent studies have established that haplotype diversity in a small region may not be greatly diminished when the number of markers is reduced to a smaller set of "haplotype-tagging" single-nucleotide polymorphisms (SNPs) that identify the most common haplotypes. These studies are motivated by the assumption that...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-004-1122-x
更新日期:2004-07-01 00:00:00
abstract::The underestimates of NF1 gene mutations in neurofibromatosis 1 (NF1) have been attributed to the large size of the NF1 gene, the considerable frequency of gross deletions and the common occurrence of splicing defects that are only detectable by cDNA analysis. We here report on a patient with severe NF1 showing at RT-...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-003-1009-2
更新日期:2003-11-01 00:00:00
abstract::5'-Bromodeoxyuridine (BrdU) present in the course of late S and G2 phases of the cell cycle in PHA-stimulated human lymphocyte cultures causes the despiralization and elongation of some chromosome regions, including short arms of acrocentric chromosomes. BrdU present at a concentration of 250 microM during the last 10...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00286640
更新日期:1983-01-01 00:00:00
abstract::In the present paper an intercalary deletion of band 8q23 is reported in another patient with Langer-Giedion syndrome. These data confirm that the deletion in 8q responsible for this malformation syndrome is located at band 8q23. ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00327126
更新日期:1983-01-01 00:00:00
abstract::There are two very different interpretations of the prehistory of Island Southeast Asia (ISEA), with genetic evidence invoked in support of both. The "out-of-Taiwan" model proposes a major Late Holocene expansion of Neolithic Austronesian speakers from Taiwan. An alternative, proposing that Late Glacial/postglacial se...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-015-1620-z
更新日期:2016-03-01 00:00:00
abstract::The development of next-generation sequencing technologies has opened-up some new possibilities to explore the contribution of genetic variants to human diseases and in particular that of rare variants. Statistical methods have been developed to test for association with rare variants that require the definition of te...
journal_title:Human genetics
pub_type: 杂志文章,评审
doi:10.1007/s00439-020-02190-y
更新日期:2020-11-01 00:00:00
abstract::Sample of 981 and 998 South African Negroes belonging to seven different ethnic groups were screened for G-6-PD and 6-PGD phenotypes, respectively. The results are discussed in terms of the interethnic variability and the possible adaptive values of these genetic polymorphisms. Particular attention is paid to the geog...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00278978
更新日期:1980-01-01 00:00:00
abstract::The Prader-Willi syndrome (PWS) and the Angelman syndrome (AS) are distinct genetic disorders that are caused by a deletion of chromosome region 15q11-13 or by uniparental disomy for chromosome 15. Whereas PWS results from the absence of a paternal copy of 15q11-13, the absence of a maternal copy of 15q11-13 leads to ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00220089
更新日期:1992-11-01 00:00:00
abstract::Deletions in 17q11.2 affecting the NF1 gene and surrounding regions occur in 5% of patients with NF1. The two major types of NF1 deletions encompass 1.4-Mb and 1.2-Mb, respectively, and have breakpoints in the NF1 low-copy repeats or in the JJAZ gene and its pseudogene. Deletions larger than 1.4-Mb are rare, and only ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-005-1265-4
更新日期:2005-05-01 00:00:00
abstract::High-risk mucosal human papillomaviruses encode an E6 oncoprotein, which binds the cellular p53 tumor suppressor protein, thereby marking it for degradation through the ubiquitin-mediated pathway. A common p53 polymorphism at codon-72 of exon 4 results in translation to either arginine or proline. Recently reported da...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s004399900138
更新日期:1999-12-01 00:00:00
abstract::A series of 195 random chromosome 22-specific probes, equivalent to approximately 1% of the size of this chromosome, have been isolated from a chromosome 22-specific bacteriophage lambda genomic library. These probes were mapped to four different regions of chromosome 22 on a panel of five somatic cell hybrids. Restri...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00200562
更新日期:1990-02-01 00:00:00
abstract::In ataxia-telangiectasia (A-T) patients, mutations in a single gene, ATM, result in an autosomal recessive syndrome that embraces a variety of clinical features and manifests extreme radiosensitivity and a strong pre-disposition to malignancy. Heterozygotes for the ATM gene have no clinical expression of A-T but may b...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s004390050634
更新日期:1997-12-01 00:00:00
abstract::Assigning a pathogenic role to mitochondrial DNA (mtDNA) variants and unveiling the potential involvement of the mitochondrial genome in diseases are challenging tasks in human medicine. Assuming that rare variants are more likely to be damaging, we designed a phylogeny-based prioritization workflow to obtain a reliab...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-015-1615-9
更新日期:2016-01-01 00:00:00
abstract::The cDNA clone encoding human UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-1 (GalNAc-T1) was isolated from colon tissue by a reverse transcriptase-polymerase chain reaction (RT-PCR). Using fluorescence in situ hybridization, the position of the GalNAc-T1 gene was shown to be localiz...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s004390050359
更新日期:1997-03-01 00:00:00
abstract::A Monte Carlo simulation procedure was used to estimate the exact level of the standardized X2 test statistic (Xs2) for randomness in the FSM methodology for the identification of fragile sites from chromosomal breakage data for single individuals. A random-number generator was used to simulate 10,000 chromosomal brea...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s004390050596
更新日期:1997-11-01 00:00:00
abstract::To elucidate genetic abnormalities in type I CD36 deficiency, we analyzed 28 Japanese subjects whose platelets and monocytes/macrophages lacked CD36 on their surface. We identified two novel mutations in the CD36 gene. One was a complex deletion/insertion mutation, in which 3 bp, GAG, were deleted at nucleotide (nt) 8...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s004390100525
更新日期:2001-06-01 00:00:00
abstract::The structural abnormality of mRNA for argininosuccinate synthetase (ASS) and the structure of immune cross-reactive material for ASS (ASS-CRM) in the liver of a patient with type III citrullinemia were analyzed using dot and Northern blot hybridization, S1 nuclease analysis, and a sensitive enzyme-linked immunosorben...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00283045
更新日期:1987-05-01 00:00:00
abstract::A linkage analysis has been performed in a large Dutch kindred with progressive mixed deafness with perilymphatic gusher during stapes surgery (DFN3) using a panel of X-chromosomal RFLPs. Tight linkage (zmax = 3.07 at 0 = theta = 0.00) was demonstrated with the locus for phosphoglycerate kinase (PGK), which is located...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00273647
更新日期:1988-12-01 00:00:00
abstract::Citrullinemia is an autosomal recessive disorder caused by a genetic deficiency of argininosuccinate synthetase (ASS). So far 20 mutations in ASS mRNA have been identified in human classical citrullinemia, including 14 single base changes causing missense mutations in the coding sequence of the enzyme, 4 mutations ass...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00191806
更新日期:1995-10-01 00:00:00
abstract::A single base substitution is responsible for the PI-Z mutation in alpha-1-antitrypsin (AAT) deficiency. The Z mutation, which is in exon V of the AAT gene, was analysed directly using a primer designed with a single base substitution in the DNA sequence. During the polymerase chain reaction with this primer, a restri...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00201739
更新日期:1991-10-01 00:00:00
abstract::Results obtained so far on the C3 polymorphism suggest that the system should be a valuable marker in population studies. The instability of the complement component C3 may, however, cause some practical problems in population genetic fieldwork, since a certain fraction of serum samples may be difficult to type with c...
journal_title:Human genetics
pub_type: 杂志文章,评审
doi:10.1007/BF00286844
更新日期:1976-08-30 00:00:00
abstract::Pediatric cataracts are observed in 1-15 per 10,000 births with 10-25 % of cases attributed to genetic causes; autosomal dominant inheritance is the most commonly observed pattern. Since the specific cataract phenotype is not sufficient to predict which gene is mutated, whole exome sequencing (WES) was utilized to con...
journal_title:Human genetics
pub_type: 临床试验,杂志文章
doi:10.1007/s00439-013-1289-0
更新日期:2013-07-01 00:00:00
abstract::A well defined polymorphism of vitamin D-binding/group-specific component (GC) residues in exon 11. To characterize the molecular basis of GC*1A2 and GC*1A3, common in some Asian populations, we analyzed all coding exons amplified by the polymerase chain reaction. GC*1F was divided into GC*1FC and GC*1FT by a C-T tran...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00223861
更新日期:1995-05-01 00:00:00
abstract::The fatty acid-binding proteins (FABPs) are cytoplasmic proteins involved in intracellular fatty acid transport and metabolism. FABP2, the intestinal-type FABP, is expressed exclusively in enterocytes in the small intestine. In previous studies of an Ala54Thr substitution in FABP2, the Thr-allele showed association wi...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-003-0937-1
更新日期:2003-05-01 00:00:00
abstract::In human females, both X chromosomes are equivalent in size and genetic content, and pairing and recombination can theoretically occur anywhere along their entire length. In human males, however, only small regions of sequence identity exist between the sex chromosomes. Recombination and genetic exchange is restricted...
journal_title:Human genetics
pub_type: 杂志文章,评审
doi:10.1007/BF01247327
更新日期:1993-10-01 00:00:00
abstract::A significantly higher frequency of baseline sister chromatid exchange (SCE) was found in the cultured lymphocytes of 13 Blackfoot disease patients (BFP) in comparison with that of healthy persons (HP). Twelve of these BFP consumed well water containing a high concentration of arsenic for 15 years or longer and had sw...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00283663
更新日期:1981-01-01 00:00:00
abstract::A specific enzyme immunoassay of uroporphyrinogen decarboxylase was developed and applied to the detection of the human enzyme in man-rodent somatic cell hybrids. This method allowed to assign the gene for uroporphyrinogen decarboxylase to human chromosome 1. ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00286601
更新日期:1984-01-01 00:00:00
abstract::A 45,X male individual was shown to have a translocation of Y-chromosome material to the short arm or proximal long arm of chromosome 15. This translocation was detected by genomic DNA blotting and in situ hybridization with Y-chromosome-specific DNA probes. ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00280488
更新日期:1986-12-01 00:00:00
abstract::The geographical distribution and prevalence of 256 single base-pair substitutions (105 of them being different) within the coding region of the human protein C (PROC) gene were correlated with their initial likelihoods of generation. A significant positive correlation was observed between these "mutational likelihood...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00207369
更新日期:1995-08-01 00:00:00
abstract::Oocyte loss has a significant impact on fertility and somatic health. Yet, we know little about factors that impact this process. We sought to identify genetic variants associated with ovarian reserve (oocyte number as measured by antral follicle count, AFC). Based on recently published genome-wide scans that identifi...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-012-1184-0
更新日期:2012-11-01 00:00:00