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Linkage analysis of Charcot-Marie-Tooth neuropathy (HMSN type I).
J Neurol Sci. 1987 Aug; 80(1):73-8.JN

Abstract

Fifteen HMSN families with 218 members and documented male-to-male transmission and slow motor nerve conduction velocities were informative for linkage to Duffy blood group (Fy), antithrombin III cDNA probe (AT3) and renin (REN). Our data support linkage to Fy in 8 families (lod score = 2.45 at theta = 0) consistent with HMSN type IB. Linkage to AT3 (lod score = 1.28 at theta = 0) and linkage of Fy to AT3 (lod score = 1.61 at theta = 0) is also supported in 3 of the 8 original families. Linkage to REN (lod score = 0.78 at theta = 0), linkage of Fy to REN (lod score = 0.89 at theta = 0), and linkage of AT3 to REN (lod score = 0.88 at theta = 0) is supported in only 2 of the 8 original families. Linkage to Fy was rejected in seven families, consistent with HMSN type IA (lod score = -4.34 at theta = 0.05). Linkage to AT3 was rejected in 12 families (lod score = -9.52 at theta = 0.05). Linkage to REN was rejected in 13 families (lod score = -11.07 at theta = 0.05). Our data provide support for the concept of genetic heterogeneity in CMT hypertrophic neuropathy (HMSN type I). The linkage of HMSN type IB to Fy seems to be tighter than to AT3 and REN, strongly suggesting the mapping of HMSN type IB locus on the proximal part of the long arm of chromosome 1, close to the centromere.

Authors

No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't
Research Support, U.S. Gov't, P.H.S.

Language

eng

PubMed ID

3302118

Citation

Ionasescu, V, et al. "Linkage Analysis of Charcot-Marie-Tooth Neuropathy (HMSN Type I)." Journal of the Neurological Sciences, vol. 80, no. 1, 1987, pp. 73-8.
Ionasescu V, Murray JC, Burns TL, et al. Linkage analysis of Charcot-Marie-Tooth neuropathy (HMSN type I). J Neurol Sci. 1987;80(1):73-8.
Ionasescu, V., Murray, J. C., Burns, T. L., Ionasescu, R., Ferrell, R., Searby, C., & Chirgwin, J. (1987). Linkage analysis of Charcot-Marie-Tooth neuropathy (HMSN type I). Journal of the Neurological Sciences, 80(1), 73-8.
Ionasescu V, et al. Linkage Analysis of Charcot-Marie-Tooth Neuropathy (HMSN Type I). J Neurol Sci. 1987;80(1):73-8. PubMed PMID: 3302118.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Linkage analysis of Charcot-Marie-Tooth neuropathy (HMSN type I). AU - Ionasescu,V, AU - Murray,J C, AU - Burns,T L, AU - Ionasescu,R, AU - Ferrell,R, AU - Searby,C, AU - Chirgwin,J, PY - 1987/8/1/pubmed PY - 1987/8/1/medline PY - 1987/8/1/entrez SP - 73 EP - 8 JF - Journal of the neurological sciences JO - J Neurol Sci VL - 80 IS - 1 N2 - Fifteen HMSN families with 218 members and documented male-to-male transmission and slow motor nerve conduction velocities were informative for linkage to Duffy blood group (Fy), antithrombin III cDNA probe (AT3) and renin (REN). Our data support linkage to Fy in 8 families (lod score = 2.45 at theta = 0) consistent with HMSN type IB. Linkage to AT3 (lod score = 1.28 at theta = 0) and linkage of Fy to AT3 (lod score = 1.61 at theta = 0) is also supported in 3 of the 8 original families. Linkage to REN (lod score = 0.78 at theta = 0), linkage of Fy to REN (lod score = 0.89 at theta = 0), and linkage of AT3 to REN (lod score = 0.88 at theta = 0) is supported in only 2 of the 8 original families. Linkage to Fy was rejected in seven families, consistent with HMSN type IA (lod score = -4.34 at theta = 0.05). Linkage to AT3 was rejected in 12 families (lod score = -9.52 at theta = 0.05). Linkage to REN was rejected in 13 families (lod score = -11.07 at theta = 0.05). Our data provide support for the concept of genetic heterogeneity in CMT hypertrophic neuropathy (HMSN type I). The linkage of HMSN type IB to Fy seems to be tighter than to AT3 and REN, strongly suggesting the mapping of HMSN type IB locus on the proximal part of the long arm of chromosome 1, close to the centromere. SN - 0022-510X UR - https://www.unboundmedicine.com/medline/citation/3302118/Linkage_analysis_of_Charcot_Marie_Tooth_neuropathy__HMSN_type_I__ L2 - https://linkinghub.elsevier.com/retrieve/pii/0022-510X(87)90222-X DB - PRIME DP - Unbound Medicine ER -