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Molecular genetic analysis of Charcot-Marie-Tooth 1A duplication in Norwegian patients by quantitative photostimulated luminescence imaging.

Abstract：

:Around 70% of Charcot-Marie-Tooth 1 (CMT1) cases are caused by a dominantly inherited 1.5-Mb duplication at 17p11.2-12 (CMT1A). Using photostimulated luminescence (PSL) imaging of MspI Southern blots, hybridization signals of the probe pVAW409R3a in relation to cohybridized probe SF85a, were densitometrically quantified and an RFLP allele-band ratio determined. A total of 55 Norwegian CMT patients and 16 asymptomatic family members from 26 separate families, clinically and neurophysiologically classified as CMT1 (n=46) and CMT2 (n=9), were studied. Thirty-two of 46 CMT1 cases (69.6%), all heterozygous but one homozygous for the pVAW409R3a MspI polymorphism, from 12 of 21 families (57.1%) were positive for the CMT1A duplication. In autosomal dominant familial cases (n=30), 26 of 30 cases (86.7%), all heterozygous, from six of seven families (85.7%) were positive for duplication. None of the CMT2 patients, asymptomatic family members or healthy controls were positive for duplication. The CMT1A frequency of duplication in Norwegian CMT1 patients is in general agreement with those reported in other European countries and the present results show that quantitative densitometric PSL imaging is a highly reliable test in diagnosing CMT1A duplication.

journal_name

J Neurol Sci

journal_title

Journal of the neurological sciences

authors

Aarskog NK,Aadland S,Gjerde IO,Vedeler CA

doi

10.1016/s0022-510x(01)00544-5

subject

Has Abstract

pub_date

2001-07-15 00:00:00

pages

21-6

issue

1-2

eissn

0022-510X

issn

1878-5883

pii

S0022510X01005445

journal_volume

188

pub_type

杂志文章

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