[Mapping the gene for palmoplantar hyperkeratosis (thylosis) to chromosome 17 in the 17q12-q24 region].
Mapping of the genetic defect causing dominant palmoplantaris hyperkeratosis (PPHK) was continued based on the material of an extended Uzbek pedigree. No linkage between the PPHK gene and hypervariable DNA markers from 8p, 12p, 14q, and 22q were revealed. The study of PPHK gene linkage with DNA markers covering the entire length of 17th chromosome mapped the PPHK gene to 17q12-q24 and revealed close linkage with KRT10 and D17S800 loci (zero recombination frequency at a lod score > 7). The possible location of a PPHK mutation in one of the keratin genes mapped to the same region on the 17th chromosome is discussed.
Rogaev
E I
EI
Rogaeva
E A
EA
Ginter
E K
EK
Korovaĭtseva
G I
GI
Farrer
L
L
Shlenskiĭ
A B
AB
Prytkov
A N
AN
St George-Hyslop
P
P
Mordovtsev
V N
VN
D002874:Chromosome Mapping; D002886:Chromosomes, Human, Pair 17; D005799:Genes, Dominant; D008040:Genetic Linkage; D005819:Genetic Markers; D006801:Humans; D007633:Keratins / Q000235:genetics; D007645:Keratoderma, Palmoplantar / Q000235:genetics*; D011995:Recombination, Genetic
D005819:Genetic Markers; D007633:Keratins