Literature DB >> 3225617

Absence of linkage with the Duffy blood group in a family with Charcot-Marie-Tooth neuropathy.

P Raeymaekers1, P De Jonghe, L Swerts, L Muylle, J Gheuens, J J Martin, C Van Broeckhoven, A Vandenberghe.   

Abstract

We report a large Belgian family with Charcot-Marie-Tooth disease (CMT) or hereditary motor and sensory neuropathy type I (HMSN-I). The pedigree consists of 5 generations with 350 family members comprising 42 patients. The disease is transmitted according to an autosomal dominant inheritance pattern. Several HMSN-I families have been reported to be closely linked to the Duffy blood group marker on chromosome 1. These families were designated HMSN-Ib families, opposed to the HMSN-Ia families which do not show evidence for such a linkage. Therefore we examined our family for the Duffy linkage relationship. We found no evidence for a strong linkage of the disease to the Duffy blood group locus, indicating that this family is of genetic subtype Ia.

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Year:  1988        PMID： 3225617     DOI： 10.1016/0022-510x(88)90212-2

Source DB:  PubMed          Journal:  J Neurol Sci        ISSN： 0022-510X            Impact factor:   3.181


  6 in total

1.  Genetic mapping of autosomal dominant Charcot-Marie-Tooth disease in a large French-Acadian kindred: identification of new linked markers on chromosome 17.

Authors:  P I Patel; B Franco; C Garcia; S A Slaugenhaupt; Y Nakamura; D H Ledbetter; A Chakravarti; J R Lupski
Journal:  Am J Hum Genet       Date:  1990-04       Impact factor: 11.025

2.  Assignment of the Charcot-Marie-Tooth neuropathy type 1 (CMT 1a) gene to 17p11.2-p12.

Authors:  V Timmerman; P Raeymaekers; P De Jonghe; G De Winter; L Swerts; K Jacobs; J Gheuens; J J Martin; A Vandenberghe; C Van Broeckhoven
Journal:  Am J Hum Genet       Date:  1990-10       Impact factor: 11.025

3.  Identification of chromosome 21 DNA polymorphisms for genetic studies in Alzheimer's disease and Down syndrome.

Authors:  G Van Camp; H Backhovens; M Cruts; A Wehnert; W Van Hul; P Stinissen; C Van Broeckhoven
Journal:  Hum Genet       Date:  1991-10       Impact factor: 4.132

4.  Estimation of the size of the chromosome 17p11.2 duplication in Charcot-Marie-Tooth neuropathy type 1a (CMT1a). HMSN Collaborative Research Group.

Authors:  P Raeymaekers; V Timmerman; E Nelis; W Van Hul; P De Jonghe; J J Martin; C Van Broeckhoven
Journal:  J Med Genet       Date:  1992-01       Impact factor: 6.318

5.  Localization of the mutation in an extended family with Charcot-Marie-Tooth neuropathy (HMSN I).

Authors:  P Raeymaekers; V Timmerman; P De Jonghe; L Swerts; J Gheuens; J J Martin; L Muylle; G De Winter; A Vandenberghe; C Van Broeckhoven
Journal:  Am J Hum Genet       Date:  1989-12       Impact factor: 11.025

6.  Linkage analysis of the Duffy blood group marker with several chromosome 1 genes in an extended pedigree with Charcot-Marie-Tooth disease.

Authors:  P Raeymaekers; C Van Broeckhoven; H Backhovens; A Wehnert; L Muylle; P De Jonghe; J Gheuens; J J Martin; A Vandenberghe
Journal:  Hum Genet       Date:  1989-02       Impact factor: 4.132
  6 in total

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