Biopolym. Cell. 1993; 9(4):105-108.
http://dx.doi.org/10.7124/bc.000369
Gene-Engineering Biotechnology
Polymorphism of pERT locus of dystrophin gene in families with high risk of muscular Duchenne dystrophy and within healthy women from Ukraine
1Grishko V. I., 1Malarchuk S. G., 1Livshits L. A.
  1. Institute of Molecular Biology and Genetics, NAS of Ukraine
    150, Akademika Zabolotnoho Str., Kyiv, Ukraine, 03680

Abstract

RELP-analysis in polymorphic systems pERT87-8-BamH1, pERT87-8-XmnI, pERT87-15-Taq1 of dystrophin gene performed in 28 families with high risk of muscular Duchenne dystrophy. This systems were diagnostically informatived for 26 families. The distribution of RELP-genotypes of pERT locus was found for 97 healthy women from Ukraine. The necessity of analysis of intragenic and Flanking markers RFLP for effective diagnosis of muscular Duchenne dystrophy is discussed in this report.
Full text: (PDF, in Russian)

References

[1] Emery A.E II. Duchenne muscular dysyrophy. Oxford monographs on molecular genetics. Oxford : Univ. press, 1987; N 15. 277 p.
[2] Kunkel LM, Monaco AP, Middlesworth W, Ochs HD, Latt SA. Specific cloning of DNA fragments absent from the DNA of a male patient with an X chromosome deletion. Proc Natl Acad Sci U S A. 1985;82(14):4778-82.
[3] Hoffman EP, Brown RH Jr, Kunkel LM. Dystrophin: the protein product of the Duchenne muscular dystrophy locus. Cell. 1987;51(6):919-28.
[4] Forrest SM, Cross GS, Speer A, Gardner-Medwin D, Burn J, Davies KE. Preferential deletion of exons in Duchenne and Becker muscular dystrophies. Nature. 1987 Oct 15-21;329(6140):638-40.
[5] Koenig M, Hoffman EP, Bertelson CJ, Monaco AP, Feener C, Kunkel LM. Complete cloning of the Duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals. Cell. 1987;50(3):509-17.
[6] Hofker MH, Wapenaar MC, Goor N, Bakker E, van Ommen G-JB, Pearson PL. Isolation of probes detecting restriction fragment length polymorphisms from X chromosome-specific libraries: potential use for diagnosis of Duchenne muscular dystrophy. Hum Genet. 1985;70(2):148–56.
[7] Kunkel LM, Hejtmancik JF, Caskey CT, Speer A, Monaco AP, Middlesworth W, Colletti CA, Bertelson C, Müller U, Bresnan M, Shapiro F, Tantravahi U, Speer J, Latt SA, Bartlett R, Pericak-Vance MA, Roses AD, Thompson MW, Ray PN, Worton RG, Fischbeck KH, Gallano P, Coulon M, Duros C, Boue J, Junien C, Chelly J, Hamard G, Jeanpierre M, Lambert M, Kaplan JC, Emery A, Dorkins H, McGlade S, Davies KE, Boehm C, Arveiler B, Lemaire C, Morgan GJ, Denton MJ, Amos J, Bobrow M, Benham F, Boswinkel E, Cole C, Dubowitz V, Hart K, Hodgson S, Johnson L, Walker A, Roncuzzi L, Ferlini A, Nobile C, Romeo G, Wilcox DE, Affara NA, Ferguson-Smith MA, Lindolf M, Kaariainen H, de la Chapelle A, Ionasescu V, Searby C, Ionasescu R, Bakker E, van Ommen GJ, Pearson PL, Greenberg CR, Hamerton JL, Wrogemann K, Doherty RA, Polakowska R, Hyser C, Quirk S, Thomas N, Harper JF, Darras BT, Francke U. Analysis of deletions in DNA from patients with Becker and Duchenne muscular dystrophy. Nature. 1986 Jul 3-9;322(6074):73-7.
[8] Wehnert M, Herrmann FH, Metzke H, Thiele H, Vogel G, Kuhnert W, Ebener U, Wulff K. Initial results of genetic carrier diagnosis in risk pedigrees with hemophilia A and B in East Germany. Z Gesamte Inn Med. 1988;43(16):441-4.
[9] Roberts RG, Cole CG, Hart KA, Bobrow M, Bentley DR. Rapid carrier and prenatal diagnosis of Duchenne and Becker muscular dystrophy. Nucleic Acids Res. 1989;17(2):811.
[10] Livshitz LA, Gryshko VI, Kravchenko SA, Ivashchenko TE, Baranov VS, Buzhievskaya TI. Analysis of DNA polymorphism in the regions closely linked with cystic fibrosis gene in Kiev population. Biopolym Cell. 1990; 6(2):60-4.
[11] Maniatis T, Fritsch EF, Sambrook J. Molecular cloning: a laboratory manual. New York: Cold Spring Harbor Lab, 1982; 545 p.