Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0012872 (DNA marker)
 929 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A family is described in which Charcot-Marie-Tooth disease is inherited as an X-linked dominant mutation (CMT2). Ten DNA marker loci on the X chromosome were used to map the disease locus by linkage analysis. The DXYS1 sequence at Xq13 was found to be linked to the CMT2 locus at an estimated distance of 6 cM (Zmax = 2.87 at theta max = 0.06). The data also suggested close linkage of the CMT2 locus to PGK1 (Zmax = 1.51 at theta max = 0) which has also been mapped to Xq13. Another DNA locus (DXS3), in the Xq21.3----Xq22 region, did not show close linkage (Zmax = -2.231 at theta max = 0.01). We conclude that the CMT2 locus is probably in or close to band Xq13.
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PMID:Localization of X-linked dominant Charcot-Marie-Tooth disease (CMT 2) to Xq13. 346 79

Charcot-Marie-Tooth disease type 1A (CMT1A) is associated with a 1.5-Mb tandem DNA duplication in chromosome 17p11.2-p12, while hereditary neuropathy with liability to pressure palsies (HNPP) is associated with a 1.5-Mb deletion at this locus. The 1.5-Mb CMT1A monomer unit duplicated in CMT1A and deleted in HNPP is flanked by low-copy repeats termed CMT1A-REPs. Both diseases appear to be caused by an altered copy number of the peripheral myelin protein 22 gene (PMP22), which lies within the critical region. To identify additional genes rapidly, we used a cosmid contig of this region and reciprocal probing of arrayed chromosome 17-specific cosmid and cDNA libraries. Three cDNA clones were identified within the CMT1A duplication/HNPP deletion region and one just proximal to the critical region. The cDNA for human heme A:farnesyltransferase (COX10) mapped 10 kb centromeric to the distal CMT1A-REP. The other two cDNA clones from within the critical interval mapped to cosmid 126D1 at the mfd41 (D17S261) DNA marker, and their conceptual translation showed homology to 60S ribosomal protein L9 (RPL9) and chromosomal protein RMSA-1 (RMSA-1). A gene that is homologous to human peroxisome proliferator activated receptor alpha (hPPARA) was identified near the proximal CMT1A-REP.
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PMID:Isolation of novel genes from the CMT1A duplication/HNPP deletion critical region in 17p11.2-p12. 902 92

A single family (1521) with CMT has been followed for 36 years (1962-1998) at Children's Hospital and the University of Washington in Seattle. The family was initially called peroneal muscular atrophy with severely slowed motor nerve conduction velocities (5-15 m/sec). In the late 1970s the family was part of several genetic studies of CMT and in 1980 represented linkage of CMT to the Duffy (Fy) locus on chromosome 1q. This finding was confirmed in an Indiana CMT family by Stebbins and Conneally (1982). This subtype of CMT was designated 1B. These investigations represented some of the last successful linkage studies in the now seemingly "ancient" pre-DNA marker era. In 1993 Hayasaka and colleagues found a point mutation in the myelin P0 gene (Asp 90 Glu) in this family, giving CMT1B a molecular basis. The historical development of this "defining" of a neurogenetic disorder reveals interesting insights into the workings of clinical genetics over the past 3 decades.
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PMID:Historical perspective of defining Charcot-Marie-Tooth type 1B. 1058 24

A single family (1521) with CMT has been followed for 36 years (1962-1998) at Children's Hospital and the University of Washington in Seattle. The family was initially called peroneal muscular atrophy with severely slowed motor nerve conduction velocities (5-15 m/sec). In the late 1970s the family was part of several genetic studies of CMT and in 1980 represented linkage of CMT to the Duffy (Fy) locus on chromosome 1q. This finding was confirmed in an Indiana CMT family by Stebbins and Conneally (1982). This subtype of CMT was designated 1B. These investgations represented some of the last successful linkage studies in the now seemingly "ancient" pre-DNA marker era. In 1993 Hayasaka and colleagues found a point mutation in the myelin P0 gene (Asp 90 Glu) in this family, giving CMT1B a molecular basis. The historical development of this "defining" of a neurogenetic disorder reveals interesting insights into the workings of clinical genetics over the past 3 decades.
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PMID:Historical Perspective of Defining Charcot-Marie-Tooth Type 1B. 2908 72