Gene: [16p133/PKD1] polycystin 1; polycystic kidney disease, adult, type 1 (autosomal dominant, Potter type III; MIM:173900); [APKD ADPKD ]
COM | The International Polycystic Kidney Disease Consortium (Cell 81, 289-298, 1995) reported the complete structure of the PKD1 gene and its protein." |
MAP | Loci: GEM:16p133/HVRDQ, GEM:16p133/HVRUZ. [1] pt-HVRDQ/VRUZ-[7.9cM]-PKD1-[6,5cM]-c. Com. The distances for male genome are given; those for female genome are substantially shorter (app.1 cM)." |
PAT | Polycystic kidney disease is often accompanied by subarachnoidal hemorrhage, although the pathogenetic mechanism of such an association is unclear. Onset of the disease is in early childhood, however many carriers of the mutation do not manifest clinical symptoms of kidney leison during the entire lifetime." |
FOG | Autosomal dominant inheritance; age-dependent incomplete penetrance; frequency is 0.1% (1:1000) in European populations." |
HET | Two other genes related to autosomal dominant polycystic kidney disease are registered (GEM:04q2/PKD2; GEM:00.0/PKD3)." |
REF | PND,POL "Breuning MH
&: Lancet, 2, 1398, 1987 REV,PAT,MGC,LIN,MOL "Dalgaard, Norbi: Clin Genet, 36, 320-325, 1989 LOC,LIN,MOL "Germino GG &: Genomics, 13, 144-151, 1992 LOC,LIN,MOL "Harris PC &: CCG, 51, (HGM10), 1011, 1989a LOC,LIN,MOL "Harris PC &: CCG, 51, (HGM10), 1011-1012, 1989b LOC,LIN,MOL "Harris PC &: Hum Genet, 77, 95-103, 1987 CLO,SEQ,GEN "Hughes J &: Nature Genet, 10, 151-160, 1995 LOC,LIN,MOL "Hyland VJ &: CCG, 51, (HGM10), 1017, 1989 POL,MUT "Neophytou P &: Hum Genet, 98, 437-442, 1996 MUT "Peral B &: AJHG, 58, 86-96, 1996a MUT "Peral B &: Hum Mol Genet, 5, 539-542, 1996b MUT "Peral B &: Hum Mol Genet, 4, 569-574, 1995 LOC,LIN,MOL "Reeders ST &: Genomics, 3, N2, 150-155, 1988 LOC,LIN,MOL "Reeders ST &: Hum Genet, 76, 348-351, 1987 LOC,LIN,MOL "Romeo G &: Lancet, 2, 8-10, 1988 EXP,FUN "Ward CJ &: PNAS, 93, 1524-1528, 1996 |
SWI | SWISSPROT: P98161 |
KEY | ren, onc |
CLA | coding, basic |
LOC | 16 p13.3 |
MIM | MIM: 601313 |
SYN | APKD ADPKD |
Смотрите также:
