Deletion in chromosome 17p11.2-12 which causes the disorder here

Details Deletion in chromosome 17p11.2-12 which causes the disorder here Deletion in chromosome 17p11.2-12 which causes the disorder here

1995-05-18

1997-07-08

Sisson, Bradley L.

Chemistry: molecular biology and microbiology

Measuring or testing process involving enzymes or...

Involving nucleic acid

435 911, 435810, 435270, 536 231, 536 235, 536 2431, 935 77, 935 78, C12Q 168, C12P 1934, C07H 2104, C12N 1500

Patent

active

056459939

ABSTRACT:
A method is disclosed for diagnosing Hereditary Neuropathy with Liability to Pressure Palsies (HNPP). A submicroscopic deletion of about 1.5 million basepairs on chromosome 17p11.2 is associated with the disorder in three unrelated pedigrees. The deletion includes all the markers known to map within the Charcot-Marie-Tooth type 1A (CMT1A) duplication. The method involves detecting the presence or absence of the deletion in DNA extracted from a patient sample. The deletion may be detected by Southern analysis or fluorescence in situ hybridization analysis (FISH). Sequences or probes that may be used to detect the deletion are provided, as are components of a kit for diagnosing HNPP.

REFERENCES:
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Chance, et al., Cell, vol. 72, pp. 143-151, Jan. 15, 1993.
Sommer and Tautz, Nucleic Acids Research, vol. 17, No. 16, p. 6749, 1989.
Lewin, R., "When Does Homology Mean Something Else?", Science, vol. 237, Sep. 25, 1987, p. 1570.
Lebo et al., "Multicolor in Situ Hybridization and Linkage Analysis Order Charot-marie-Tooth Type 1 (CMT1A) Gene-Region markers," Am. J. Human Genet. 50:42-55 1992.

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