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June 19, 1996, Vol 275, No. 23 >
ARTICLE | June 19, 1996

Medical Genetics FREE

Edward R. B. McCabe, MD, PhD
JAMA. 1996;275(23):1819-1821. doi:10.1001/jama.1996.03530470047028
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References

Three areas of genetics that remain active include gene identification, disease susceptibility, and gene therapy. Examples of the power of the genetic approach to identify genes without prior knowledge of the function of the gene products are the genes for ataxiatelangiectasia (AT), the infantile subtype of neuronal ceroid lipofuscinosis (NCL), and autosomal dominant polycystic kidney disease. Knowledge of the roles of specific gene products in fundamental developmental biological processes of model organisms also has permitted the identification of mutant genes in human disorders and improved the understanding of syndromic birth defects. Examples of mutant genes that predispose to cancer, in addition to the AT gene, are the breast cancer genes, BRCA1, and the newly cloned BRCA2 gene, which are responsible for many of the familial breast cancers. Finally, gene therapy remains an area of great, but unfulfilled, promise, leading to expressions of concern about gene therapy from 2 panels sponsored

REFERENCES

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Online Mendelian Inheritance in Man, OMIM: The Human Genome Data Base Project . Baltimore, Md: Johns Hopkins University; 1995;. On the World Wide Web: http://gdbwww.gdb.org/omim/docs/omimtop.html.
2 +
Pearson P, Francomano C, Foster P, Bocchini C, Li P, McKusick V.  The status of Online Mendelian Inheritance in Man (OMIM) medio 1994. Nucleic Acids Res . 1994;;22:3470-3473.
3 +
Savitsky K, Bar-Shira A, Gilad S, et al.  A single ataxia-telangiectasia gene with a product similar to PI-3 kinase. Science . 1995;;268:1749-1753.
4 +
Vesa J, Hellsten E, Verkruyse LA, et al.  Mutations in the palmitoyl protein thioesterase gene causing infantile neuronal ceroid lipofuscinosis. Nature . 1995;;376:584-587.
5 +
The European Polycystic Kidney Disease Consortium.  The polycystic kidney disease 1 gene encodes a 14 kb transcript and lies within a duplicated region on chromosome 16. Cell . 1994;;77:881-894.
6 +
The International Polycystic Kidney Disease Consortium.  Polycystic kidney disease: the complete structure of the PKDl gene and its protein. Cell . 1995;;81:289-298.
7 +
Muenke M, Schell U.  Fibroblast-growth factor receptor mutations in human skeletal disorders. Trends Genet . 1995;;11:308-313.
8 +
Epstein CJ.  The new dysmorphology: application of insights from basic developmental biology to the understanding of human birth defects. Proc Natl Acad Sci U S A 1995;;92:8566-8573.
9 +
Sanyanusin P, Schimmenti LA, McNoe LA, et al.  Mutation of the PAX2 gene in a family with optic nerve colobomas, renal anomalies, and vesicoureteral reflux. Nat Genet . 1995;;9:358-364.
10 +
Struewing JP, Abeliovich D, Peretz T, et al.  The carrier frequency of the BRCA1 185delAG mutation is approximately 1 percent in Ashkenazi Jewish individuals. Nat Genet . 1995;;11:198-200.
11 +
Goldgar DE, Reilly PR.  A common BRCA1 mutation in the Ashkenazim. Nat Genet . 1995;;11:113-114.
12 +
Clayton EW, Steinberg KK, Khoury MJ, et al.  Informed consent for genetic research on stored tissue samples. JAMA . 1995;;274:1786-1792.
13 +
Grody WW.  Molecular pathology, informed consent, and the paraffin block. Diagn Mol Pathol . 1995;;4:155-157.
14 +
Phillips JA III, Cohen MM, Fleisher LD, Smith ACM, Clayton EW.  American College of Medical Genetics statement: statement on storage and use of genetic materials. Am J Hum Genet . 1995;;57:1499-1500.
15 +
Fitzgerald MG, MacDonald DJ, Krainer M, et al.  Germ-line BRCA1 mutations in Jewish and non-Jewish women with early-onset breast cancer. N Engl J Med . 1996;;334:143-149.
16 +
Langston AA, Malone KE, Thompson JD, Daling JR, Ostrander EA.  BRCA1 mutations in a population-based sample of young women with breast cancer. N Engl J Med . 1996;;334:137-142.
17 +
Wooster R, Bignell G, Lancaster J, et al.  Identification of the breast cancer susceptibility gene BRCA2. Nature . 1995;;378:789-791.
18 +
Marshall E.  Gene therapy's growing pains. Science . 1995;;269:1050-1055.
19 +
Kaiser J.  Gene therapy panel gets a thumbs up. Science . 1995;;270:1287.
20 +
Marshall E.  Less hype, more biology needed for gene therapy. Science . 1995;;270:1751.

Figures

Tables

Interactive Graphics

Video

Country-Specific Mortality and Growth Failure in Infancy and Yound Children and Association With Material Stature

Use interactive graphics and maps to view and sort country-specific infant and early dhildhood mortality and growth failure data and their association with maternal

1 +
Online Mendelian Inheritance in Man, OMIM: The Human Genome Data Base Project . Baltimore, Md: Johns Hopkins University; 1995;. On the World Wide Web: http://gdbwww.gdb.org/omim/docs/omimtop.html.
2 +
Pearson P, Francomano C, Foster P, Bocchini C, Li P, McKusick V.  The status of Online Mendelian Inheritance in Man (OMIM) medio 1994. Nucleic Acids Res . 1994;;22:3470-3473.
3 +
Savitsky K, Bar-Shira A, Gilad S, et al.  A single ataxia-telangiectasia gene with a product similar to PI-3 kinase. Science . 1995;;268:1749-1753.
4 +
Vesa J, Hellsten E, Verkruyse LA, et al.  Mutations in the palmitoyl protein thioesterase gene causing infantile neuronal ceroid lipofuscinosis. Nature . 1995;;376:584-587.
5 +
The European Polycystic Kidney Disease Consortium.  The polycystic kidney disease 1 gene encodes a 14 kb transcript and lies within a duplicated region on chromosome 16. Cell . 1994;;77:881-894.
6 +
The International Polycystic Kidney Disease Consortium.  Polycystic kidney disease: the complete structure of the PKDl gene and its protein. Cell . 1995;;81:289-298.
7 +
Muenke M, Schell U.  Fibroblast-growth factor receptor mutations in human skeletal disorders. Trends Genet . 1995;;11:308-313.
8 +
Epstein CJ.  The new dysmorphology: application of insights from basic developmental biology to the understanding of human birth defects. Proc Natl Acad Sci U S A 1995;;92:8566-8573.
9 +
Sanyanusin P, Schimmenti LA, McNoe LA, et al.  Mutation of the PAX2 gene in a family with optic nerve colobomas, renal anomalies, and vesicoureteral reflux. Nat Genet . 1995;;9:358-364.
10 +
Struewing JP, Abeliovich D, Peretz T, et al.  The carrier frequency of the BRCA1 185delAG mutation is approximately 1 percent in Ashkenazi Jewish individuals. Nat Genet . 1995;;11:198-200.
11 +
Goldgar DE, Reilly PR.  A common BRCA1 mutation in the Ashkenazim. Nat Genet . 1995;;11:113-114.
12 +
Clayton EW, Steinberg KK, Khoury MJ, et al.  Informed consent for genetic research on stored tissue samples. JAMA . 1995;;274:1786-1792.
13 +
Grody WW.  Molecular pathology, informed consent, and the paraffin block. Diagn Mol Pathol . 1995;;4:155-157.
14 +
Phillips JA III, Cohen MM, Fleisher LD, Smith ACM, Clayton EW.  American College of Medical Genetics statement: statement on storage and use of genetic materials. Am J Hum Genet . 1995;;57:1499-1500.
15 +
Fitzgerald MG, MacDonald DJ, Krainer M, et al.  Germ-line BRCA1 mutations in Jewish and non-Jewish women with early-onset breast cancer. N Engl J Med . 1996;;334:143-149.
16 +
Langston AA, Malone KE, Thompson JD, Daling JR, Ostrander EA.  BRCA1 mutations in a population-based sample of young women with breast cancer. N Engl J Med . 1996;;334:137-142.
17 +
Wooster R, Bignell G, Lancaster J, et al.  Identification of the breast cancer susceptibility gene BRCA2. Nature . 1995;;378:789-791.
18 +
Marshall E.  Gene therapy's growing pains. Science . 1995;;269:1050-1055.
19 +
Kaiser J.  Gene therapy panel gets a thumbs up. Science . 1995;;270:1287.
20 +
Marshall E.  Less hype, more biology needed for gene therapy. Science . 1995;;270:1751.

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