Chromosome 4q DNA rearrangements associated with facioscapulohumeral muscular dystrophy

Nature Genetics - Tập 2 Số 1 - Trang 26-30 - 1992
Cisca Wijmenga1, Jane Hewitt, Lodewijk A. Sandkuijl, Lorraine N. Clark, Tracy J. Wright, Hans G. Dauwerse, A M Gruter, M H Hofker, Petra Moerer, R Williamson
1MGC-Department of Human Genetics, Leiden University, The Netherlands.

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Tài liệu tham khảo

Munsat, T.L. Facioscapulohumeral dystrophy and the scapuloperoneal syndrome. In Myology (eds Engel, A.G. & Banker, B.Q.) 1251–1266 (McGraw Hill, New York, 1986).

Padberg, G.W. Facioscapulohumeral disease (thesis, Leiden University, 1982).

Lunt, P.W., Compston, D.A.S. & Harper, P.S. Estimation of age dependent penetrance in Facioscapulohumeral muscular dystrophy by minimising ascertainment bias. J. med. Genet. 26, 755–760 (1989).

Lunt, P.W. & Harper, P.S. Genetic counseling in facioscapulohumeral muscular dystrophy. J. med. Genet. 28, 655–664 (1991).

Collins, F.S. Positional cloning: Let's not call it reverse anymore Nature Genet. 1, 3–6 (1992).

Wijmenga, C. et al. Location of facioscapulohumeral muscular dystrophy gene on chromosome 4. Lancet 336, 651–653 (1990).

Upadhyaya, M. et al. DNA marker applicable to presymptomatic and prenatal diagnosis of facioscapulohumeral disease. Lancet 336, 1320–1321 (1990).

Wijmenga, C. et al. Mapping of facioscapulohumeral muscular dystrophy gene to chromosome 4q35-qter by multipoint linkage analysis and in situ hybridisation. Genomics 9, 570–575 (1991).

Sarfarazi, M. et al. Regional mapping of facioscapulohumeral disease on 4q35. Combined analysis of an international consortium. Am. J. hum. Genet. (in the press).

Mills, K.A. et al. Genetic and physical mapping in the 4q35 region near the gene for FSHD. Am. J. hum. Genet. (in the press).

Callen, D.F., Baker, E.G. & Lane, S.A. Re-evaluation of GM2346 from a del(16)(q22) to t(4;16)(q35;q22.1). Clinic. Genet. 38, 466–468 (1990).

Miller, S.A., Dykes, D.D. & Polesky, H.F. A simple salting out procedure for extracting DNA from nucleated cells. Nucl. Acid. Res. 16, 1215 (1988).

Church, G.M. & Gilbert, W. Genome Sequencing. Proc. natn. Acad. Sci. U.S.A. 81, 1991–1995 (1984).

Hewitt, J.E., Clark, L.N., Ivens, A. & Williamson, R. Sructure and sequence of the human homeobox gene HOX7. Genomics 11, 670–678 (1991).

Langer, P.R., Waldrop, A.A. & Ward, D.C. Enzymatic synthesis of biotin labelled polynucleotides: novel nucleic acid affinity probes. Proc. natn. Acad. Sci. U.S.A. 78, 6633–6637 (1981).

Weber, J.L. & May, P.E. Abundant class of human DNA polymorphisms which can be typed using the polymerase chain reaction. Am. J. hum. Genet. 44, 388–396 (1989).