Genotype‐Phenotype Relationships

Stanislas Lyonnet, Hôpital Necker‐Enfants Malades, Paris, France
Josué Feingold, Hôpital Necker‐Enfants Malades, Paris, France
Jean Frézal, Hôpital Necker‐Enfants Malades, Paris, France

Published online: September 2006

DOI: 10.1002/9780470015902.a0005476

Since the beginning of the cloning of human disease-causing genes and the identification of gene mutations, in most cases of Mendelian disorders a clear correlation between a given genotype and a particular phenotype has not been established. Understanding the complex relationships between genotypes and phenotypes is one of the greatest challenges of genetic medicine, because the elucidation of these correlations is the key to using genetic diagnosis and DNA-based tests for the diagnosis, prognosis and surveillance of individuals affected by genetic conditions.

Keywords: genotype; phenotype; modifier genes; variable expression; locus heterogeneity; allelic heterogeneity

 Further Reading
    Dryja TP (1997) Gene-based approach to human gene–phenotype correlations. Proceedings of the National Academy of Sciences of the United States of America 94: 12117–12121.
    Estivill X (1996) Complexity in a monogenic disease. Nature Genetics 12: 348–350.
    Feingold J (2000) Les gènes modificateurs dans les maladies héréditaires. Médecine/Sciences 16: 1–5.
    Gottlieb B, Beitel LK and Trifiro MA (2001) Somatic mosaicism and variable expressivity. Trends in Genetics: TIG 17: 79–82.
    Holtzman NA and Marteau TM (2000) Will genetics revolutionize medicine? New England Journal of Medicine 343: 141–144.
    Nadeau JH (2001) Modifier genes in mice and human. Nature Reviews Genetics 2: 165–173.
    Qian F and Germino GG (1997) “Mistakes happen”: somatic mutation and disease. American Journal of Human Genetics 61: 1000–1005.
    Romeo G and McKusick VA (1994) Phenotypic diversity, allelic series and modifier genes. Nature Genetics 7: 451–453.
    Suthers GK and Davies KE (1992) Phenotypic heterogeneity and the single gene. American Journal of Human Genetics 50: 887–891.
 Web Links
    ePath GENATLAS. Genatlas is an interactive database collecting gene loci and their map position (more than 13000 loci at present), disease phenotypes (2900), and related literature (more than 46000) citations. http://www.dsi.univ-paris5.fr/genatlas/
    ePath FGFR3 (fibroblast growth factor receptor 3 (achondroplasia, thanatophoric dwarfism)); LocusID: 2261 LocusLink: http://www.ncbi.nlm.nih.gov/LocusLink/LocRpt.cgi?l=2261
    ePath HBB (hemoglobin, beta); LocusID: 3043. LocusLink: http://www.ncbi.nlm.nih.gov/LocusLink/LocRpt.cgi?l=3043
    ePath PAH (phenylalanine hydroxylase); LocusID: 5053. LocusLink: http://www.ncbi.nlm.nih.gov/LocusLink/LocRpt.cgi?l=5053
    ePath RET (ret proto-oncogene (multiple endocrine neoplasia and medullary thyroid carcinoma 1, Hirschsprung disease)); LocusID: 5979. LocusLink: http://www.ncbi.nlm.nih.gov/LocusLink/LocRpt.cgi?l=5979
    ePath SMN1 (survival of motor neuron 1, telomeric); LocusID: 6606. LocusLink: http://www.ncbi.nlm.nih.gov/LocusLink/LocRpt.cgi?l=6606
    ePath FGFR3 (fibroblast growth factor receptor 3 (achondroplasia, thanatophoric dwarfism)); MIM number: 134934. OMIM: http://www3.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?134934
    ePath HBB (hemoglobin, beta); MIM number: 141900. OMIM: http://www3.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?141900
    ePath PAH (phenylalanine hydroxylase); MIM number: 261600. OMIM: http://www3.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?261600
    ePath RET (ret proto-oncogene (multiple endocrine neoplasia and medullary thyroid carcinoma 1, Hirschsprung disease)); MIM number: 164761. OMIM: http://www3.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?164761
    ePath SMN1 (survival of motor neuron 1, telomeric); MIM number: 600354. OMIM: http://www3.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?600354

Related Sub-Topics:

Mutational Mechanisms of Genetic Disease | Genetic Models
Contact Editor close
Submit a note to the editor about this article by filling in the form below.

* Required Field

Article Title: Genotype‐Phenotype Relationships
 
How to Cite close
Lyonnet, Stanislas, Feingold, Josué, and Frézal, Jean(Sep 2006) Genotype‐Phenotype Relationships. In: eLS. John Wiley & Sons Ltd, Chichester. http://www.els.net [doi: 10.1002/9780470015902.a0005476]