Gene: [19p132/LDLR] low density lipoprotein receptor; familial hypercholesterolemia (hyperlipoproteinemia IIA); [HC FH FHC ]


GEN

The gene length is 45 kb or more. Exons: 18.

FAG

The gene for apolipoprotein E, one of ligands of the low density lipoprotein receptor, is located in the long arm of chr 19 (GEM:19q132/APOE)."

PRO

Probe name: Vector Site Insert(kb) Reference
[1] pLDLR-2HH1 pSP64 1.919 BamHI Russell-1984
[2] pLDLR3 pCDV1 5.3 BamHI/XbaI Russell-1984; ATCC
[3] pRHP17 pUC18 8.5 HincII Hegele-1988
[4] RH15A ? 40 ? Hegele-1989
[5] pRHR3 pUC18 1.8 HincII Hegele-1988"

POL

Restrictase Alleles in kb/(Popul Freq) Const Bands in kb (Reference; Probe number)
[1] PvuII A1= 19.0/(0.72); A2= 16.0+2.6/(0.28); CB= 4.8 (Humphries-1985; Talmud-1985; Nakamura-1987; Probe 1) PvuII A1= 16.5/(0.78); A2= 14.0+2.5/(0.22); CBs= 3.5+0.5 (Brink-1987; Hobbs-1985; Kotze-1987b; Taylor-1987; Pedersen-1988; Probe 1)
[2] PstI B1= 3.4/(0.60); B2= 2.85/(0.40) (Funke-1986; Probe unknown) PstI B1 /(0.852); B2 /(0.18) (Yamakawa-1988; Probe unknown)
[3] ApaLI C1= 26.4/(?); C2= 22.4/(?); C3= 19.6/(?) (Lejtersdorf-1987; Probe 2)
[4] ApaLI/BamHI (Humphries-1988; in Caucasians D1= 9.4/(0.58); D2= 6.6/(0.42); CB= 3.8 Lejtersdorf-1987; in Japanese D1 /(0.66); D2 /(0.34) Yamakawa-1988; Probe 2)
[5] ApaLI/BamHI (Humphries-1988; in Caucasians E1= 17/(0.39); E2= 13/(0.61) Lejtersdorf-1987; in Japanese E1 /(0.48); E2 /(0.52) Yamakawa-1988; Probe 2)
[6] MspI F1= 0.47/(0.23); F2= 0.44/(0.77) (Geisel-1987; Probe 1)
[7] MspI G1= 1.1/(0.23); G2= 1.0/(0.77) (Geisel-1987; Probe 1)
[8] BstEII J1= 33/(0.75); J2= 23+11/(0.25) CBs= 4+5 (Steyn-1987; Probe 1) BstEII/EcoRI J1= 12/(?); J2= 9+ 3/(?); CBs= 4+5 (Kotze-1987c; Probe 1)
[9] TaqI K1= 1.7/(0.67); K2= 0.6/(0.33); CB= 1.1 (Yamakawa-1987; Yamakawa-1988; Probe 2)
[10] StuI L1= 15/(0.92); K2= 17/(0.08); CB= 9.0 (Brink-1987; Kotze-1986; Taylor-1987; Probe 1)
[11] PvuI M1= 8.5/(0.76); M2= 4.9, 3.6/(0.24); (Hegele-1988; Probe 3)
[12] NcoI N1=13/(0.28); N2= 3.4/(0.72); CBs= 9+7 (Taylor-1987; Kotze-1987a; Kotze-1987b; Probe 1) in Japanese - N1 /(0.45); N2 /(0.55) (Yamakawa-1988; Probe 1)
[13] RsaI O1= 3.2/(0.75); O2= 1.8/(0.25) (Hegele-1988; Probe 5)
[14] HincII (PCR-amplification) (Lejtersdorf-1988) P1= 0.133/(0.55); P2= 0.098/(0.45);
[15] AvaII/XbaI Q1= 1.9/(0.56); Q2= 1.7/(0.44) (Hobbs-1987; Probe 2) in Japanese -Q1 /(0.78); Q2 /(0.22) (Yamakawa-1988; Probe 2)
[16] ApaI R1= 4.5/(0.04); R2= 4.2/(0.96); several CBs (Hegele-1989a; Probe 4)
[17] BclI S1= 8.7/(0.22); S2= 5.5/(0.78); several CBs (Hegele-1989a; Probe 4)
[18] SacI/KpnI T1= 2.05/(0.50); S2= 2.0/(0.50); several CBs (Hegele-1989a; Probe 4)
[19] StuI U1= 20/(0.86); U2= 12.5+7.5/(0.14); CB= 5.3 (Hegele-1989b; Probe 4)"

LIN

Loci: GEM:19p131/MEL.
[1] See GEM:19p131/MEL."

MAP

Loci: GEM:19p133/C3; GEM:19p1/ICAM4(LW).
[1] pt-LDLR-[20cM]-C3-LW."

REF

POG,POL,MOL "Brink PA &: Hum Genet, 77, 32-35, 1987
EXP,FUN "Cuthbert &: JBC, 264, N2, 1298-1304, 1989
LOC,CYG,EXP "Francke U &: PNAS, 81, 2826-2830, 1984
POL,MOL "Funke H &: NAR, 14, 7820, 1986
POL,MOL "Geisel J &: NAR, 15, 3943, 1987
REV,GEN,MUT,EVO,FUN,PAT "Goldstein &: Annu Rev Cell Biol, 1, 1-39, 1985
TER,GEN "Grossman M &: Nature Med, 1, N11, 1148-1154, 1995
TER,GEN "Grossman M &: Nature Genet, 17, 601-607, 1991
POL,MOL "Hegele RA &: NAR, 17, N1, 470, 1989a
POL,MOL "Hegele RA &: NAR, 17, 1786, 1989b
POL,MOL "Hegele RA &: NAR, 16, 7214, 1988
POL,MOL "Hobbs HH &: NAR, 15, 379, 1987
POL,MOL,EVO "Hobbs HH &: PNAS, 82, 7651-7655, 1985
FOG,POL,MOL "Humphries SE &: Lancet, 2, 794-795, 1988
POL,FOG,MOL "Humphries SE &: Lancet, 1, 1003-1005, 1985
POL,MOL "Kotze MJ &: J Med Genet, 26, N4, 255-259, 1989
POL,MOL "Kotze MJ &: NAR, 15, 376, 1987a
POL,MOL "Kotze MJ &: J Med Genet, 24, 750-755, 1987b
POL,MOL "Kotze MJ &: NAR, 15, 10067, 1987c
POL,MOL "Kotze MJ &: S Afr Med, 70, 77-79, 1986
POL,MOL "Lejtersdorf &: AJHG, 44, N3, 409-421, 1989
POL,MOL "Lejtersdorf &: NAR, 16, 7215, 1988
POL,MOL "Lejtersdorf &: NAR, 15, 2782, 1987
LIN,MAP "Lewis &: Ann Hum Genet, 52, 137-144, 1988
LIN,MAP "Lewis &: CCG, 46, (HGM9), 650, 1987
LOC,MOL,FAG "Lindgren V &: PNAS, 82, N24, 8567-8571, 1985
LOC,LIN,MOL,FAG "Lusis AJ &: PNAS, 83, N11, 3929-3933, 1986
LIN,MAG,POL,MOL "Nakamura &: CCG, 46, (HGM9), 667, 1987
POL,MOL "Pedersen JC &: Clin Genet, 34, 306-312, 1988
GEN,MOP,SEQ "Rudiger NS &: Eur J Biochem, 198, 107-111, 1991
CLO,SEQ,PEP,MOP,EVO,EAG "Russell &: Cell, 37, 577-585, 1984
REV,GEN,MUT,EVO,FUN,PAT "Schneider &: BBA, 988, 303-317, 1989
REV,GEN,MUT,MOP,FUN,PHE,MEB "Soutar, Knight: Brit Med Bull, 46, N4, 891-916, 1990
POL,MOL "Steyn LT &: NAR, 15, 4702, 1987
GEN,SEQ,MOP,EXP "Sudhoff &: Science, 228, 815-822, 1985a
GEN,SEQ,MOP,EXP "Sudhoff &: Science, 228, 893-895, 1985b
POL,MOL "Talmud &: CCG, 40, (HGM8), 760, 1985
POL,MOL "Taylor &: CCG, 46, (HGM9), 703, 1987
POL,MOL "Yamakawa K &: Hum Genet, 80, 1-5, 1988
POL,MOL "Yamakawa K &: NAR, 15, 7659, 1987
CLO,SEQ,PEP,MOP,EVO,EAG "Yamamoto T &: Cell, 39, 27-38, 1984

KEY

ats, card, lip, recp

CLA

coding, basic

LOC

19 p13.2

MIM

MIM: 143890

SYN

HC FH FHC

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