Molecular basis of genetic disease and molecular methods

被引:1
|
作者
McPherson, RA
机构
关键词
D O I
10.1016/S0272-2712(18)30300-7
中图分类号
R446 [实验室诊断]; R-33 [实验医学、医学实验];
学科分类号
1001 ;
摘要
Nucleic acid testing is possible because of the physical and biomechanical properties of DNA and RNA such as hybridization, which also form the basis for the physiologic role of nucleic acids. The entire framework of genetic analysis involves the nucleotide sequence of genes, intragenic structure, supragene organization, and mapping of genes onto chromosomes. Genetic diseases are the consequence of mutations affecting one to many nucleotides. Such genetic alterations are detectable by several special assays for examining nucleic acids that are now common in genetic laboratories.
引用
收藏
页码:779 / +
页数:1
相关论文
共 50 条
  • [1] The molecular and genetic basis of neurological disease.
    Rizzuto, N
    NEUROPSYCHOLOGIA, 1998, 36 (12) : 1417 - 1417
  • [2] Editorial overview: Molecular & genetic basis of disease
    Bonini, Nancy M.
    Lee, Edward B.
    Wasco, Wilma
    Roses, Allen D.
    CURRENT OPINION IN GENETICS & DEVELOPMENT, 2017, 44 : IV - vi
  • [3] Biochemical and molecular genetic basis of Fabry disease
    Pastores, GM
    Liew, YHH
    JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY, 2002, 13 (06): : S130 - S133
  • [4] Genetic and Molecular Basis of Inflammasome-mediated Disease
    Hoffman, Hal M.
    Brydges, Susannah D.
    JOURNAL OF BIOLOGICAL CHEMISTRY, 2011, 286 (13) : 10889 - 10896
  • [5] MOLECULAR BASIS OF DISEASE
    JANEWAY, CA
    ACTA PAEDIATRICA SCANDINAVICA, 1962, 51 (01): : 99 - &
  • [6] The genetic and molecular basis of epilepsy
    Guerrini, R
    Casari, G
    Marini, C
    TRENDS IN MOLECULAR MEDICINE, 2003, 9 (07) : 300 - 306
  • [7] The genetic and molecular basis for chemoprevention
    Hong, WK
    ANNALS OF ONCOLOGY, 1998, 9 : 15 - 15
  • [8] Molecular and genetic basis of depression
    Roy, Madhumita
    Tapadia, Madhu G.
    Joshi, Shobhna
    Koch, Biplob
    JOURNAL OF GENETICS, 2014, 93 (03) : 879 - 892
  • [9] Molecular genetic basis of ribotyping
    Bouchet, Valerie
    Huot, Heather
    Goldstein, Richard
    CLINICAL MICROBIOLOGY REVIEWS, 2008, 21 (02) : 262 - +
  • [10] Molecular and genetic basis of depression
    MADHUMITA ROY
    MADHU G. TAPADIA
    SHOBHNA JOSHI
    BIPLOB KOCH
    Journal of Genetics, 2014, 93 : 879 - 892