@article{1bcb6d52b99f42f59b890dc1d2811813,
title = "Molecular pathology of the β-globin gene cluster",
abstract = "In the past few years there has been intensive study of the human globin genes. This study has provided important insights into normal gene structure and function and the nature of molecular defects leading to a set of inherited diseases. It is clear that a similar kind of analysis will soon be carried out on genes which cause single gene defects of neurological significance. Examples of disease-producing genes which are candidates for future analysis are those which produce Duchenne muscular dystrophy, Tay-Sachs disease and various other inherited degenerative diseases of the nervous system. When these genes are isolated one should expect to find common polymorphism or variation in the sequence of the normal gene and its surrounding DNA, and extensive heterogeneity in the mutations producing the defective genes responsible for the disorder. The major lesson derived from studies of β-globin genes is the expectation that genetic heterogeneity both in normal and disease-producing genes will be extensive. This heterogeneity will have important consequences for prenatal diagnosis and potential gene therapy.",
author = "Kazazian, {Haig H.}",
note = "Funding Information: I would like to thank Emily Pasterfleld for the preparation of this manuscnpt, and also give special thanks to S H Orkin, S E Antonarakls, C_ D. Boehm, P G Waber, T C-Cheng, P_ V Giardlna, A Li, S Charache, J Sexton, S Goff, A F Scott, J A Phillips, K Buetow and A Cha-kravam who contributed to much of the work reviewed here This work was supported by grants from the NIH and the National Foundation-March of Dimes I Mamatls, R, Fntsch, E F, Lauer, J and Lawn, R M (1980)Annu Rev Genet 14, 145-178 2 Lauer, J , Shen, C-K J and Maniatis, T (1980) Cell 20, 119-130 3 Proudfoot, N J and Manlatls, T (1980) Cell 21,537-544 4 Proudfoot, N J , Gill, A and Mamat~s, T (1982) Cell 21,553-563 5 Fntsch, E F, Lawn, R M and Mamatls, T (1980) Cell 19, 959-973 6 Deisseroth, A, Nlenhms, A, Lawrence, J , Giles, R, Turner, P and Ruddle, F H (1978) Proc Natl Acad Sct USA 75, 1456- 1460 7 Tilghman, S M , Tiemeler. D C , Seidman, J G , et al (1978) Proc Natl Acad Scl USA 75,725-729 8 Grabowsk~, P J , Padgett, R A and Sharp P A (1984) Cell 37, 415-427 9 Breathnach, R and Chambon, P (1981) Annu Rev Bmchem 50, 349-383 10 Mount, S M (1982) Nucleic Acids Res 10, 459--472 11 Lawn, R M, Efstratladls, A, O'Connell, C and Mamatls, T (1980) Cell 21,647~651 12 Llebhaber, S A, Goossens, M. Poon. R and Kan, Y W (1980) Proc NatlAcad Scl USA 77, 7054-7058 13 Mamatis, T, Hardtson, R C , Lacy, E , et al (1978) Cell 15,687-701 14 Nathans. D and Smith, H O (1975) Annu Rev Blochem 44, 273-290 15 Southern, E M (1978) J Mol Btol 98, 503-517 16 Kan, H W and Dozy, A M (1978) Proc Natl Acad ScI USA 75, 5631-5635 17 Chakravarti, A, Buetow, K H. Anton-arakis, S E,Waber, P G,Boehm, C D and Kazazlan, H H Jr Am J Hum Genet (m press) 18 Antonarakis. S E, Boehm, C D, Giar-dma, P J V and Kazazian, H H, Jr (1982) Proc Natl Acad Scl USA 79, 137-141 19 Spntz, R A (1981) Nucleic Acids Res 9, 5037-5047 20 Orkln, S H, Kazazian, H H , Jr , Anton-arakls, S E , et al (1982) Nature (London) 296 627~631 21 Chang, J C and Kan, Y W (1979) Proc, Natl Acad Scl USA 76, 2886-2889 22 Orkin, S H and Kazazmn, H H, Jr (1984) Annu Rev Genet 18, 131-171 23 Arous, N, Galacteros, F. Fessas, P, et al (1983) FEBS Len 147 247-300 24 Boehm, C D , Antonarakis. S E . Phillips, J A , Stetten, G and Kazazian, H H , Jr (1983) N Engl J Med 308, 1054-1058 25 Orkln, S H, Markham, A F and Kazazlan, H H , Jr (1983) J Chn Invest 71,775-779 26 Semenza, G L, Delgrosso, K, Poncz, M, Malladi, P, Schwartz, E and Surrey, S (1984) Cell 39, 123-128 27 Treisman, R A, Orkin, S H and Mamatls, T (1983) Nature (London) 302, 591-596 28 Poncz, M. Ballantme, M, SolowIejczyk. D . Barak, J , Schwartz, E and Surrey, S (1982) J Btol Chem 257, 5994-5996 29 Spntz. R A, Jagadeeswaran, P, Choudary, P V, et al (1981) Proc Natl Acad Sct USA 78, 2455-2459",
year = "1985",
doi = "10.1016/0166-2236(85)90077-3",
language = "English (US)",
volume = "8",
pages = "192--200",
journal = "Trends in neurosciences",
issn = "0166-2236",
publisher = "Elsevier Limited",
number = "C",
}