Gene: [01q41/USH2A] Usher syndrome 2 gene; Usher syndrome 2 (retinitis/deafness; autosomal recessive, mild); [USH2 US2 ]


HET

See GEM:14q32/USH1A.

HIS

Previously one of the USH types (MIM:276900) was mapped to Chr 4, basing on the linkage with the GC marker (Daiger-1987; Pelias-1988); however, later the same authors, using more precise methods, ruled out this location (Smith-1988,1989a,b). Therefore, the USH1 marker was excluded from the list of mapped genes, and then is indicated as a locus of chromosome 14 (GEM:14q32/USH1A)."

REF

LOC "Bessant DAR &: J Med Genet, 35, N9, 773-774, 1998
LIN,LOC "Daiger SP &: CCG, 46, 602-602, 1987
PAT,PHE,COM "Davenport &: Pediatrics, 62, 578-583, 1978
CLO,SEQ,MUT "Eudy JD &: Science, 280, N5370, 1753-1757, 1998
PAT,PHE,COM "Gorlin &: Arch Otolaryngol, 105, 353-354, 1979
LIN,LOC "Kimberling WJ &: AJHG, 56, 216-223, 1995
LIN,LOC "Kimberling WJ &: Genomics, 7, 245-249, 1990
LIN,LOC "Lewis RA &: Genomics, 7, 250-256, 1990
LIN,LOC "Pelias MZ &: CCG, 47, 111-112, 1988
LIN,LOC,HET "Pieke Dahl S &: J Med Genet, 33, N9, 753-757, 1996
LIN,LOC,HET "Pieke Dahl S &: J Med Genet, 30, N10, 843-848, 1993
LIN,LOC "Smith RJH &: CCG, 51, 1082-1082, 1989a
LIN,LOC "Smith RJH &: CCG, 50, 102-106, 1989b
LIN,LOC "Smith RJH &: AJHG, 43, A159-159, 1988

KEY

eye, neu

CLA

coding, basic

LOC

01 q41

MIM

MIM: 276901

SYN

USH2 US2

Смотрите также:

  • Gene: [03q2/RHO] rhodopsin (visual pigment apoprotein); retinitis pigmentosa 4, (autosomal dominant; rhodopsin-related); congenital stationary night blindness 4; [RP4 RP5 CSNB4 ]
  • Gene: [01q41/ESRRG] estrogen-related receptor gamma;
  • Gene: [01q4/CHML] geranylgeranyltransferase, component A2; choroideremia-like protein;