Characteristics of African probands analysed for LDLR and apo B gene mutations
| Index | Ancestry | Sex | Age | TC | TG | HDL | LDL | Clinical | LDLR gene sequence changes | Apo B gene sequence changes | Relatives tested | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| (mmol/l)1-152 | |||||||||||||||||||
| CM | Xhosa | F | 52 | 8.5 | 2.7 | 1.5 | 5.8 | CHD | R793Q | 0 | |||||||||
| MX | Xhosa | M | 50 | 10.8 | 2.0 | 0.9 | 9.0 | Arc, Xan | −175g→t | 0 | |||||||||
| AN | Swazi | F | 58 | 10.1 | 0.9 | 1.3 | 8.4 | Arc, Xan, CHD | D151H | 0 | |||||||||
| AS | Swazi | M | 49 | 8.0 | 1.0 | 2.1 | 5.4 | Arc, CHD | P678L | 0 | |||||||||
| AM1-150 | Swazi/Zulu | F | 56 | 8.3 | 1.5 | 1.9 | 5.7 | Arc | 11 | ||||||||||
| CK1-151 | Zulu | M | 26 | 13.8 | 0.8 | 1.3 | 12.1 | Arc, Xan | −175g→t | 1 | |||||||||
| SH | Sotho | M | 33 | 12.7 | 2.2 | 1.2 | 10.5 | Arc, Xan | 313+1G→A; R232W | 4 | |||||||||
| RK | Sotho | M | 58 | 10.7 | 2.3 | 1.0 | 8.6 | CHD | R385Q | 0 | |||||||||
| KN1-151 | Pedi | F | 32 | 14.9 | 0.8 | 1.4 | 13.1 | Arc, Xan | 6-bp del, 6-bp del | 0 | |||||||||
| EF | Pedi | F | 56 | 13.1 | 1.1 | 1.2 | 11.4 | Arc, PVD, CHD | E387K; −175g→t; C347C | T3552T; T3540T | 10 | ||||||||
| LP | Pedi | F | 61 | 9.4 | 0.8 | 0.9 | 8.1 | Arc, Xan | 6-bp del | 3 | |||||||||
| CN1-150 | Pedi | F | 57 | 7.4 | 2.6 | 0.9 | 5.3 | Arc, PVD | 6 | ||||||||||
| RM1-150 | Pedi/Tswana | F | 54 | 10.8 | 0.4 | 1.3 | 9.3 | Arc, ?Xan | 3 | ||||||||||
| LM1-150 | Tswana | F | 56 | 6.1 | 1.8 | 1.8 | 3.5 | Arc, CHD | −175g→t | T3552T | 0 | ||||||||
| RL | Tswana | F | 30 | 9.3 | 0.8 | 1.7 | 7.2 | Arc, Xan | 6-bp del | 0 | |||||||||
| CS | Tswana | F | 47 | 7.9 | 0.7 | 1.7 | 5.9 | Arc | 6-bp del | 0 | |||||||||
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.