Journal Title
Title of Journal:
|
Abbravation: Journal of Human Genetics
|
Publisher
Nature Publishing Group
|
|
|
|
Authors: Masao S Sasaki
Publish Date: 1983/06
Volume: 28, Issue: 2, Pages: 73-
Abstract
Thank you for visiting naturecom You are using a browser version with limited support for CSS To obtain the best experience we recommend you use a more up to date browser or turn off compatibility mode in Internet Explorer In the meantime to ensure continued support we are displaying the site without styles and JavaScriptSome of human monogenic syndromes associated with high cancer propensity are characterized by an inherent tendency toward chromosome instability and provide an important key to the understanding of genetic control mechanism of chromosome mutation and its relevance to the development of neoplasms Among those of recessive traits some are unequivocally demonstrated to be associated with defects in DNA metabolism which might be an integral component of the chromosome instability and cancer proneness of these diseases However in these diseases the relationship between inherent genes and the development of cancer is rather indirect and the gene traits do not provide sufficient information on the nature of mutation toward cancerThere is another class of genetic diseases in which inherent gene for cancer proneness is expressed dominantly They are not identified as an alteration in metabolism but are more informative about the nature of the mutation toward cancer In some of these diseases the inherent genes promote chromosome structural rearrangements in their somatic cells Such enhancement of chromosome mutation has been found in skin fibroblasts from patients with hereditary adenomatosis of colon dominantly inherited familial childhood leukemia familial colon cancer and prokeratosis of Mibelli Chromosome mutation promoted such dominant genes resembles in many respects those associated with MR gene or P factor in Drosophila and genecontrol elements in maize In hereditary form of retinoblastoma such chromosome mutation of de novo origin was also found to occur in their skin fibroblasts However such was not the case for patients with a deletion in chromosome 13 13q− nor the sporadic unilateral cases Cultured skin fibroblasts from patients with hereditary retinoblastoma showed abnormally high susceptibility to transformation by murine sarcoma virus while those from patients with 13q− and sporadic unilateral cases were as sensitive as normal controls These findings suggest that the retinoblastoma gene which is responsible for the hereditary retinoblastoma is essentially different in its nature from 13q− The modification of gene expression at 13q14 site by deletion translocation and genecontrol element has been implicated for the genesis of hereditary retinoblastoma
Keywords:
.
|
Other Papers In This Journal:
- Clinical and genetic analysis of HLXB9 gene in Korean patients with Currarino syndrome
- Mitochondrial DNA mutations in Leigh syndrome and their phylogenetic implications
- Distal 15q trisomy with Dandy-Walker malformation in a female infant
- Molecular cloning, mapping, and characterization of a novel human gene, MTA1-L1 , showing homology to a metastasis-associated gene, MTA1
- G6PD Viangchan (871G>A) is the most common G6PD-deficient variant in the Cambodian population
- Mucopolysaccharidosis IVA: A novel splice acceptor site mutation in intron 4 of the N -acetylgalactosamine-6-sulfate sulfatase gene in an afghanistan girl with classical morquio disease
- Genetic alteration of the DCX gene in Japanese patients with subcortical laminar heterotopia or isolated lissencephaly sequence
- Isolation of human chromosome 21-specific cosmids and their uses in mapping of cosmid contigs on chromosomal subregions
- Novel polymorphism in the 5′-untranslated region of the interleukin-4 gene
- A comprehensive method to scan for point mutations of the glucose 6 phosphate dehydrogenase gene
- Dynamin 2 gene is a novel susceptibility gene for late-onset Alzheimer disease in non- APOE -ε4 carriers
- A linkage disequilibrium at the candidate gene locus for 16q-linked autosomal dominant cerebellar ataxia type III in Japan
- The hOGG1 Ser 326 Cys gene polymorphism is associated with decreased insulin sensitivity in subjects with normal glucose tolerance
- Concordance and discordance of anencephaly in 109 twin pairs in Japan
- Molecular cloning of a novel human gene ( SIRP-B2 ) which encodes a new member of the SIRP/SHPS-1 protein family
- Genomic imprinting and its relevance to genetic diseases
- No evidence for significant association between GABA receptor genes in chromosome 15q11-q13 and autism in a Japanese population
- Ret/PTC3 is the most frequent form of gene rearrangement in papillary thyroid carcinomas in Japan
- Subsequent pregnancy outcomes in recurrent miscarriage patients with a paternal or maternal carrier of a structural chromosome rearrangement
- A disease with immune deficiency, skin abscesses, pancytopenia, abnormal bone marrow karyotype, and increased sister chromatid exchanges: An autosomal recessive chromosome instability syndrome?
- Allele frequencies of single nucleotide polymorphisms (SNPs) in 40 candidate genes for gene-environment studies on cancer: data from population-based Japanese random samples
- Analysis of the HLA-DRw9 antigen using two-dimensional gel electrophoresis and alloantisera
- High heritability of bone size at the hip and spine in Chinese
- Dual origins of the Japanese: common ground for hunter-gatherer and farmer Y chromosomes
- Amelioration of prolidase deficiency in fibroblasts using adenovirus mediated gene transfer
- In situ detection of insulin-like growth factor II ( IGF2 ) and H19 gene expression in hepatocellular carcinoma
- A novel missense mutation of the EDA gene in a Mongolian family with congenital hypodontia
- Molecular basis of intermittent maple syrup urine disease: novel mutations in the E2 gene of the branched-chain α-keto acid dehydrogenase complex
- Common coding variant in the TCF7L2 gene and study of the association with type 2 diabetes in Japanese subjects
- Saliva acid phosphatases and amylase in Senoi and Aboriginal Malays and superoxide dismutase in various racial groups of peninsular Malaysia
- High prevalence of Southeast Asian ovalocytosis in Malays with distal renal tubular acidosis
- Linkage study of dominantly inherited olivo-ponto-cerebellar atrophy (OPCA) and Holmes' ataxia
- A common functional exon polymorphism in the microsomal triglyceride transfer protein gene is associated with type 2 diabetes, impaired glucose metabolism and insulin levels
- Study of AZFc partial deletion gr/gr in fertile and infertile Japanese males
- Genetic polymorphism of the a subunit of human coagulation factor XIII in Japanese
- Mutational analysis of ATP7B gene in Egyptian children with Wilson disease: 12 novel mutations
|