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Genetic linkage and heterogeneity in type I Charcot-Marie-Tooth disease (hereditary motor and sensory neuropathy type I).
Am J Hum Genet. 1990 Dec; 47(6):915-25.AJ

Abstract

The segregation patterns of DNA markers from the pericentromeric regions of chromosomes 1 and 17 were studied in seven pedigrees segregating an autosomal dominant gene for Charcot-Marie-Tooth neuropathy type I (CMT I; hereditary motor and sensory neuropathy I). A multilocus analysis with four markers (pMCR-3, pMUC10, FY, and pMLAJ1) spanning the pericentromeric region of chromosome 1 excluded the CMT I gene from this region in six pedigrees but gave some evidence for linkage to the region of Duffy in one pedigree. Linkage of the CMT I gene to markers in the pericentromeric region of chromosome 17 (markers pA10-41, pEW301, p3.6, and pTH17.19) was established; however, in these seven pedigrees homogeneity analysis with chromosome 17 markers detected significant genetic heterogeneity. This analysis suggested that three of the seven pedigrees are not linked to this same region. Overall, two of the seven CMT I pedigrees were not linked to markers tested from chromosomes 1 or 17. These results confirm genetic heterogeneity in CMT I and implicate the existence of a third autosomal locus, in addition to a locus on chromosome 17, and a probable locus on chromosome 1. This evidence of etiological heterogeneity, supported by statistical tests, will have to be taken into consideration when fine-structure genetic maps of the regions around CMT I are constructed.

Authors+Show Affiliations

Division of Medical Genetics, University of Utah Medical Center, Salt Lake City 84132.No 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, Non-P.H.S.
Research Support, U.S. Gov't, P.H.S.

Language

eng

PubMed ID

2239969

Citation

Chance, P F., et al. "Genetic Linkage and Heterogeneity in Type I Charcot-Marie-Tooth Disease (hereditary Motor and Sensory Neuropathy Type I)." American Journal of Human Genetics, vol. 47, no. 6, 1990, pp. 915-25.
Chance PF, Bird TD, O'Connell P, et al. Genetic linkage and heterogeneity in type I Charcot-Marie-Tooth disease (hereditary motor and sensory neuropathy type I). Am J Hum Genet. 1990;47(6):915-25.
Chance, P. F., Bird, T. D., O'Connell, P., Lipe, H., Lalouel, J. M., & Leppert, M. (1990). Genetic linkage and heterogeneity in type I Charcot-Marie-Tooth disease (hereditary motor and sensory neuropathy type I). American Journal of Human Genetics, 47(6), 915-25.
Chance PF, et al. Genetic Linkage and Heterogeneity in Type I Charcot-Marie-Tooth Disease (hereditary Motor and Sensory Neuropathy Type I). Am J Hum Genet. 1990;47(6):915-25. PubMed PMID: 2239969.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Genetic linkage and heterogeneity in type I Charcot-Marie-Tooth disease (hereditary motor and sensory neuropathy type I). AU - Chance,P F, AU - Bird,T D, AU - O'Connell,P, AU - Lipe,H, AU - Lalouel,J M, AU - Leppert,M, PY - 1990/12/1/pubmed PY - 1990/12/1/medline PY - 1990/12/1/entrez SP - 915 EP - 25 JF - American journal of human genetics JO - Am J Hum Genet VL - 47 IS - 6 N2 - The segregation patterns of DNA markers from the pericentromeric regions of chromosomes 1 and 17 were studied in seven pedigrees segregating an autosomal dominant gene for Charcot-Marie-Tooth neuropathy type I (CMT I; hereditary motor and sensory neuropathy I). A multilocus analysis with four markers (pMCR-3, pMUC10, FY, and pMLAJ1) spanning the pericentromeric region of chromosome 1 excluded the CMT I gene from this region in six pedigrees but gave some evidence for linkage to the region of Duffy in one pedigree. Linkage of the CMT I gene to markers in the pericentromeric region of chromosome 17 (markers pA10-41, pEW301, p3.6, and pTH17.19) was established; however, in these seven pedigrees homogeneity analysis with chromosome 17 markers detected significant genetic heterogeneity. This analysis suggested that three of the seven pedigrees are not linked to this same region. Overall, two of the seven CMT I pedigrees were not linked to markers tested from chromosomes 1 or 17. These results confirm genetic heterogeneity in CMT I and implicate the existence of a third autosomal locus, in addition to a locus on chromosome 17, and a probable locus on chromosome 1. This evidence of etiological heterogeneity, supported by statistical tests, will have to be taken into consideration when fine-structure genetic maps of the regions around CMT I are constructed. SN - 0002-9297 UR - https://www.unboundmedicine.com/medline/citation/2239969/Genetic_linkage_and_heterogeneity_in_type_I_Charcot_Marie_Tooth_disease__hereditary_motor_and_sensory_neuropathy_type_I__ L2 - https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/2239969/ DB - PRIME DP - Unbound Medicine ER -