...Liling Zhao; Hongmei Dai; Qin Zhang; Wenmu Hu; Ping Jin Introduction: Type A insulin resistance syndrome is a rare type of congenital insulin resistance often caused by heterozygous mutations in the insulin receptor gene (INSR). The aim of this study was to explore the clinical and genetic...

... cell and/or the auditory nerve function is disrupted. It is a heterogeneous disorder, which can have either congenital or acquired causes. Methods: We found a disease-segregating mutation in the X-linked AIFM1 gene through whole-exome sequencing, encoding the apoptosis-inducing factor mitochondrion...

... repertoire of antigen receptor genes and the establishment of the adaptive immunity. RAG1 mutations can lead to multiple forms of combined immunodeficiency. Methods: In this report, whole exome sequencing was performed in a Moroccan child suffering from combined immunodeficiency, with T and B lymphopenia...

...Amale Bousfiha; Zied Riahi; Lamiae Elkhattabi; Amina Bakhchane; Hicham Charoute; Khalid Snoussi; Crystel Bonnet; Christine Petit; Abdelhamid Barakat Mutations in the mesenchymal epithelial transition factor ( MET ) gene are frequently associated with multiple human cancers but can also lead...

... mutation data from Catalogue of Somatic Mutations in Cancer (COSMIC). Results: These data indicate that these 3 subtypes share very little with each other at the genetic level. At the germline SNP level, only 24 independent SNPs from 2 chromosomes were shared across all 3 subtypes. We also demonstrate...

...Ming He; Kun Lin; Youguang Huang; Licun Zhou; Qingcheng Yang; Shude Li; Weiying Jiang Objectives: To estimate the prevalence and mutation types of G6PD deficiency and evaluate the relationship between G6PD genotypes and erythrocyte phenotypes in the Dai and Jingpo ethnic groups in the Dehong...

...Hua-Ling Chen; May-Jen Huang; Ching-Shan Huang; Tang K. Tang Using a non-radioactive PCR-SSCP technique, we identified a novel glucose-6-phosphate dehydrogenase (G6PD) mutation in a Chinese newborn with neonatal jaundice. This new variant (G6PD NanKang) causes a T to C change at nucleotide position...

...John S. Waye; Barry Eng Variable number of tandem repeats (VNTR) loci are among the most polymorphic sequences described to date. VNTR allelic variability is a function of the high rates of de novo mutation due to intra- and inter-allelic recombination. We have assessed the allelic stability...

... heterogeneity of the mutations causing AIP has been demonstrated with a reported predominance of single base substitutions resulting in amino acid changes. The molecular basis of AIP in four French patients was investigated using denaturing gradient gel electrophoresis followed by direct sequencing. We describe...

...Sun-Wei Guo We investigate properties of simple linkage disequilibrium mapping for five measures in the presence of mutation at the marker and/or the disease locus and of initial incomplete linkage disequilibrium. In contrast to the stimulation approach that Devlin and Risch used, we calculate...

...E. Beutler; B. Westwood; W. Kuhl; Y.E. Hsia Sequence analysis has been performed on the DNA of 13 glucose-6-phosphate dehydrogenase (G6PD) deficient males from Hawaii, 6 of Filipino, 6 of Laotian, and 1 of Chinese extraction. Four different mutations were found: A→T at cDNA nt 835, G→A at nt 871, C...

.... Paternity testing Blood group HLA DNA markers Biostatistical evaluation Classical paternity exclusion α 1 -Antitrypsin Mutation Intracistronal crossing-over Original Papers Hum Hered 1991;41:1-11 © 1991 S. Karger AG. Basel 0001-5652/91/0411-0001 S 2.75/0 New Mutation versus Exclusion...

..., compared with 28.1 for their normal brothers, 34.4 for their sisters and 58.5 and 64.6 for males and females in the general population. Mean relative fitness was calculated as 0.45 and the prevalence of hemophilia A in Chile as 1 case among 13,500 males. A preliminary estimate of the mutation rate was 1.35...

... critical region between microsatellite markers D6S1602 and D6S1665. The screening of 3 candidate genes, COL11A2 , BAK1 and TMHS , did not reveal any disease causing mutation, suggesting that this is a novel deafness locus, which has been named DFNB66 . A search in the Human Cochlear EST Library for ESTs...

...Xiaoye Schneider-Yin; Martin Hergersberg; David E. Goldgar; Urszula B. Rüfenacht; Macé M. Schuurmans; Hervé Puy; Jean-Charles Deybach; Elisabeth I. Minder Acute intermittent porphyria (AIP) is a low-penetrant autosomal dominant disorder caused by mutations in the porphobilinogen deaminase gene...

... heterozygote with two novel mutations (103–121 del and 1460T>A). The former leads to a frameshift and premature termination, and the latter is a missense mutation, V487E. Both mutations were also detected in the genomic DNA. Taken together with previous mutation reports, genetic heterogeneity was suspected...

... Italian regions, Calabria, Campania, Piemonte, Puglia/Basilicata and Sicilia. Phenylalaninehydroxylase (PAH) gene mutations and minihaplotypes (combinations of PAH gene STR and VNTR systems) have been determined for 78.5 and 64%, respectively, of the chromosomes studied. 21 different minihaplotypes and 24...

...Tsutomu Aoshima; Mitsuharu Kajita; Yoshitaka Sekido; Satoshi Kikuchi; Izumi Yasuda; Takeyori Saheki; Kazuyoshi Watanabe; Kaoru Shimokata; Toshimitsu Niwa Mutation Report Hum Hered 2001;52:99 101 Received: February 1, 2000 Revision received: July 21, 2000 Accepted: August 21, 2000 Novel Mutations...

...Lung-An Hsu; Yu-Lin Ko; Shu-Mei Wang; Chi-Jen Chang; Tsu-Shiu Hsu; Cheng-Wen Chiang; Ying-Shiung Lee Objectives: We sought to investigate the association between the methylenetetrahydrofolate reductase (MTHFR) gene C677T mutation and the risk of coronary artery disease (CAD), myocardial infarction...

...(s) disclaim responsibility for any injury to persons or property resulting from any ideas, methods, instructions or products referred to in the content or advertisements. Keratin Helix initiation motif Mutation Hair disease Mutation Report Hum Hered 2000;50:322 324 Received: April 29...