Benlian P, Boileau C, Loux N, Pastier D, Masliah J, Coulon M, Nigou M, Ragab A, Guimard J, Ruidavets J B
INSERM U73, CHU Saint-Antoine, Paris, France.
Am J Hum Genet. 1991 May;48(5):903-10.
One hundred fifty-four unrelated French Caucasian subjects were typed for 11 RFLPs at or near the APOA1-C3-A4 gene cluster on the long arm of chromosome 11. All subjects belonged to families having lived in the Toulouse area (in the southwest of France) for over three generations. Allele frequencies for each RFLP were in agreement with previous studies in Caucasian populations for the APOA1/SstI marker. Pairwise linkage disequilibrium was determined. Among the 55 pairs studied, 30 are newly reported. Only three significant nonrandom associations were found: APOA1/MspI-3'APOC3/SstI, APOA1/MspI-3'APOA4/XbaI, and APOA4/DraI-APOA4/XbaI. Extended 11-marker haplotypes were constructed. Haplotype frequencies were estimated by the maximum-likelihood procedure and compared to expected frequencies calculated under the assumption of equilibrium. Among the 37 estimated haplotypes, seven containing at least four nonrandomly associated alleles showed markedly increased frequencies. These results, obtained in a geographically homogeneous population, confirm the existence of disequilibrium in the apolipoprotein cluster, but to a lower extent than previously reported in Caucasian populations, which were geographically more heterogeneous.
对154名无血缘关系的法国白种人受试者进行了位于11号染色体长臂上APOA1 - C3 - A4基因簇或其附近的11种限制性片段长度多态性（RFLP）分型。所有受试者均来自在法国西南部图卢兹地区生活了三代以上的家庭。每个RFLP的等位基因频率与先前对白种人群中APOA1/SstI标记的研究结果一致。确定了成对连锁不平衡情况。在所研究的55对中，有30对是新报道的。仅发现了三个显著的非随机关联：APOA1/MspI - 3'APOC3/SstI、APOA1/MspI - 3'APOA4/XbaI和APOA4/DraI - APOA4/XbaI。构建了扩展的11标记单倍型。通过最大似然法估计单倍型频率，并与在平衡假设下计算的预期频率进行比较。在37种估计的单倍型中，七种包含至少四个非随机关联等位基因的单倍型频率显著增加。这些在地理上同质的人群中获得的结果证实了载脂蛋白簇中存在不平衡，但程度低于先前在地理上更具异质性的白种人群中报道的程度。
