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

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