Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Query: UMLS:C0012872 (
DNA marker
)
929
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
A large CMT family with 5 affected males and 10 affected females of 37 members in four generations was investigated by recombinant DNA studies. The proband patient in his original description of the pedigree indicated male-to- male transmission in one of his relatives, suggesting autosomal dominant inheritance. The genetic linkage study between the CMT locus and the loci of six markers mapped on chromosome 1 (FY, APCS,
AT3
, REN, APOA2, and GBA) gave negative results. These findings prompted further pedigree investigation which proved that male-to-male transmission was not present. A genetic linkage study with DXYS1, which is a
DNA marker
mapped on the long arm of the chromosome X, revealed tight linkage with z = 3.15 at theta = 0.10.
...
PMID:X-linked dominant Charcot-Marie-Tooth neuropathy with 15 cases in a family genetic linkage study. 322 32
