Table 1

Characteristics of African probands analysed for LDLR and apo B gene mutations

IndexAncestrySexAgeTCTGHDLLDLClinicalLDLR gene
sequence changes
Apo B gene
sequence changes
Relatives tested
MXXhosaM5010., Xan−175g→t0
ANSwaziF5810., Xan, CHDD151H0
ASSwaziM498., CHDP678L0
AM1-150 Swazi/ZuluF568.
CK1-151 ZuluM2613.80.81.312.1Arc, Xan−175g→t1
SHSothoM3312., Xan313+1G→A; R232W4
KN1-151 PediF3214.90.81.413.1Arc, Xan6-bp del, 6-bp del0
EFPediF5613., PVD, CHDE387K; −175g→t; C347CT3552T; T3540T10
LPPediF619., Xan6-bp del3
CN1-150 PediF577., PVD6
RM1-150 Pedi/TswanaF5410., ?Xan3
LM1-150 TswanaF566., CHD−175g→tT3552T0
RLTswanaF309., Xan6-bp del0
CSTswanaF477. del0
  • The majority of mutations summarised in this table were included in a recent mutation update.22

  • Reference plasma cholesterol concentrations in the general black population are given in ref 24.

  • TC, total cholesterol; TG, triglycerides, HDL, high density lipoprotein cholesterol; LDL, low density lipoprotein cholesterol; CHD, coronary heart disease; PVD, peripheral vascular disease; Arc, arcus cornealis; Xan, xanthomata.

  • 1-150 Probable FH.

  • 1-151 Clinical FH homozygotes.

  • 1-152 Pretreatment concentrations, except for proband LM for whom pretreatment levels were not available.