BIOMAT Database Logo BIOMAT Database Logo

ATM mutations in patients with ataxia telangiectasia screened by a hierarchical strategy. 1998

T Sasaki, and H Tian, and Y Kukita, and M Inazuka, and T Tahira, and T Imai, and M Yamauchi, and T Saito, and T Hori, and T Hashimoto-Tamaoki, and K Komatsu, and O Nikaido, and K Hayashi
Division of Genome Analysis, Institute of Genetic Information, Kyushu University, Fukuoka, Japan.

ATM has been identified as a gene that is responsible for ataxia telangiectasia (AT), a pleiotropic disorder of autosomal recessive inheritance. While many mutations of this gene in AT patients of various ethnicities have been reported, data on Japanese patients are scarce. In this report, we present the results of a thorough survey of ATM mutations in 14 unrelated AT patients, with an emphasis on Japanese subjects. We used a hierarchical strategy in which we extensively analyzed the entire coding region of the cDNA. In the first stage, point mutations were sought by PCR-SSCP in short patches. In the second and third stages, the products of medium- and long-patch PCR, each covering the entire region, were examined by agarose gel electrophoresis to search for length changes. We found a total of 15 mutations (including 12 new) and 4 polymorphisms. Abnormal splicing of ATM was frequent among Japanese, and no hotspot was obvious, suggesting no strong founder effects in this ethnic group. Eleven patients carried either one homozygous or two compound heterozygous mutations, one patient carried only one detectable heterozygous mutation, and no mutation was found in two patients. Overall, mutations were found in at least 75% of the different ATM alleles examined. Possible reasons for the inability to detect mutations in some patients are discussed.

UI MeSH Term Description Entries
D008969 Molecular Sequence Data Descriptions of specific amino acid, carbohydrate, or nucleotide sequences which have appeared in the published literature and/or are deposited in and maintained by databanks such as GENBANK, European Molecular Biology Laboratory (EMBL), National Biomedical Research Foundation (NBRF), or other sequence repositories. Sequence Data, Molecular,Molecular Sequencing Data,Data, Molecular Sequence,Data, Molecular Sequencing,Sequencing Data, Molecular
D011506 Proteins Linear POLYPEPTIDES that are synthesized on RIBOSOMES and may be further modified, crosslinked, cleaved, or assembled into complex proteins with several subunits. The specific sequence of AMINO ACIDS determines the shape the polypeptide will take, during PROTEIN FOLDING, and the function of the protein. Gene Products, Protein,Gene Proteins,Protein,Protein Gene Products,Proteins, Gene
D002460 Cell Line Established cell cultures that have the potential to propagate indefinitely. Cell Lines,Line, Cell,Lines, Cell
D004268 DNA-Binding Proteins Proteins which bind to DNA. The family includes proteins which bind to both double- and single-stranded DNA and also includes specific DNA binding proteins in serum which can be used as markers for malignant diseases. DNA Helix Destabilizing Proteins,DNA-Binding Protein,Single-Stranded DNA Binding Proteins,DNA Binding Protein,DNA Single-Stranded Binding Protein,SS DNA BP,Single-Stranded DNA-Binding Protein,Binding Protein, DNA,DNA Binding Proteins,DNA Single Stranded Binding Protein,DNA-Binding Protein, Single-Stranded,Protein, DNA-Binding,Single Stranded DNA Binding Protein,Single Stranded DNA Binding Proteins
D004587 Electrophoresis, Agar Gel Electrophoresis in which agar or agarose gel is used as the diffusion medium. Electrophoresis, Agarose Gel,Agar Gel Electrophoresis,Agarose Gel Electrophoresis,Gel Electrophoresis, Agar,Gel Electrophoresis, Agarose
D006579 Heterozygote An individual having different alleles at one or more loci regarding a specific character. Carriers, Genetic,Genetic Carriers,Carrier, Genetic,Genetic Carrier,Heterozygotes
D006720 Homozygote An individual in which both alleles at a given locus are identical. Homozygotes
D001260 Ataxia Telangiectasia An autosomal recessive inherited disorder characterized by choreoathetosis beginning in childhood, progressive CEREBELLAR ATAXIA; TELANGIECTASIS of CONJUNCTIVA and SKIN; DYSARTHRIA; B- and T-cell immunodeficiency, and RADIOSENSITIVITY to IONIZING RADIATION. Affected individuals are prone to recurrent sinobronchopulmonary infections, lymphoreticular neoplasms, and other malignancies. Serum ALPHA-FETOPROTEINS are usually elevated. (Menkes, Textbook of Child Neurology, 5th ed, p688) The gene for this disorder (ATM) encodes a cell cycle checkpoint protein kinase and has been mapped to chromosome 11 (11q22-q23). Louis-Bar Syndrome,Ataxia Telangiectasia Syndrome,Ataxia-Telangiectasia,Telangiectasia, Cerebello-Oculocutaneous,Louis Bar Syndrome,Syndrome, Ataxia Telangiectasia,Syndrome, Louis-Bar
D001483 Base Sequence The sequence of PURINES and PYRIMIDINES in nucleic acids and polynucleotides. It is also called nucleotide sequence. DNA Sequence,Nucleotide Sequence,RNA Sequence,DNA Sequences,Base Sequences,Nucleotide Sequences,RNA Sequences,Sequence, Base,Sequence, DNA,Sequence, Nucleotide,Sequence, RNA,Sequences, Base,Sequences, DNA,Sequences, Nucleotide,Sequences, RNA
D016133 Polymerase Chain Reaction In vitro method for producing large amounts of specific DNA or RNA fragments of defined length and sequence from small amounts of short oligonucleotide flanking sequences (primers). The essential steps include thermal denaturation of the double-stranded target molecules, annealing of the primers to their complementary sequences, and extension of the annealed primers by enzymatic synthesis with DNA polymerase. The reaction is efficient, specific, and extremely sensitive. Uses for the reaction include disease diagnosis, detection of difficult-to-isolate pathogens, mutation analysis, genetic testing, DNA sequencing, and analyzing evolutionary relationships. Anchored PCR,Inverse PCR,Nested PCR,PCR,Anchored Polymerase Chain Reaction,Inverse Polymerase Chain Reaction,Nested Polymerase Chain Reaction,PCR, Anchored,PCR, Inverse,PCR, Nested,Polymerase Chain Reactions,Reaction, Polymerase Chain,Reactions, Polymerase Chain

Related Publications

T Sasaki, and H Tian, and Y Kukita, and M Inazuka, and T Tahira, and T Imai, and M Yamauchi, and T Saito, and T Hori, and T Hashimoto-Tamaoki, and K Komatsu, and O Nikaido, and K Hayashi
Novel ATM mutations with ataxia-telangiectasia.
January 2016, Neuroscience letters,
T Sasaki, and H Tian, and Y Kukita, and M Inazuka, and T Tahira, and T Imai, and M Yamauchi, and T Saito, and T Hori, and T Hashimoto-Tamaoki, and K Komatsu, and O Nikaido, and K Hayashi
[ATM gene mutations in Chinese patients with ataxia telangiectasia].
April 2005, Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics,
T Sasaki, and H Tian, and Y Kukita, and M Inazuka, and T Tahira, and T Imai, and M Yamauchi, and T Saito, and T Hori, and T Hashimoto-Tamaoki, and K Komatsu, and O Nikaido, and K Hayashi
Characterisation of ATM mutations in Slavic Ataxia telangiectasia patients.
September 2011, Neuromolecular medicine,
T Sasaki, and H Tian, and Y Kukita, and M Inazuka, and T Tahira, and T Imai, and M Yamauchi, and T Saito, and T Hori, and T Hashimoto-Tamaoki, and K Komatsu, and O Nikaido, and K Hayashi
ATM Gene Mutations Detection in Iranian Ataxia-Telangiectasia Patients.
June 2004, Iranian journal of allergy, asthma, and immunology,
T Sasaki, and H Tian, and Y Kukita, and M Inazuka, and T Tahira, and T Imai, and M Yamauchi, and T Saito, and T Hori, and T Hashimoto-Tamaoki, and K Komatsu, and O Nikaido, and K Hayashi
Diversity of ATM gene mutations detected in patients with ataxia-telangiectasia.
January 1997, Human mutation,
T Sasaki, and H Tian, and Y Kukita, and M Inazuka, and T Tahira, and T Imai, and M Yamauchi, and T Saito, and T Hori, and T Hashimoto-Tamaoki, and K Komatsu, and O Nikaido, and K Hayashi
Six novel ATM mutations in Italian patients with classical ataxia-telangiectasia.
April 2003, Human mutation,
T Sasaki, and H Tian, and Y Kukita, and M Inazuka, and T Tahira, and T Imai, and M Yamauchi, and T Saito, and T Hori, and T Hashimoto-Tamaoki, and K Komatsu, and O Nikaido, and K Hayashi
Twelve novel Atm mutations identified in Chinese ataxia telangiectasia patients.
September 2013, Neuromolecular medicine,
T Sasaki, and H Tian, and Y Kukita, and M Inazuka, and T Tahira, and T Imai, and M Yamauchi, and T Saito, and T Hori, and T Hashimoto-Tamaoki, and K Komatsu, and O Nikaido, and K Hayashi
The spectrum of ATM gene mutations in Iranian patients with ataxia-telangiectasia.
August 2021, Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology,
T Sasaki, and H Tian, and Y Kukita, and M Inazuka, and T Tahira, and T Imai, and M Yamauchi, and T Saito, and T Hori, and T Hashimoto-Tamaoki, and K Komatsu, and O Nikaido, and K Hayashi
DHPLC screening of ATM gene in Italian patients affected by ataxia-telangiectasia: fourteen novel ATM mutations.
January 2006, Disease markers,
T Sasaki, and H Tian, and Y Kukita, and M Inazuka, and T Tahira, and T Imai, and M Yamauchi, and T Saito, and T Hori, and T Hashimoto-Tamaoki, and K Komatsu, and O Nikaido, and K Hayashi
Identification of ATM mutations in Korean siblings with ataxia-telangiectasia.
May 2013, Annals of laboratory medicine,
Copied contents to your clipboard!