A genetic study of hypoalphalipoproteinemia.
A genetic study of hypoalphalipoproteinemia.
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低α脂蛋白血症的遗传学研究。
DOI：
10.1002/gepi.1370010107
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发表时间：
1984
影响因子：
2.1
通讯作者：
Rao,DC
中科院分区：
文献类型：
--
作者：
Byard,PJ;Borecki,IB;Glueck,CJ;Laskarzewski,PM;Third,JL;Rao,DC
在统一的遗传混合模型（主基因和多因子）下，对通过23个先证确定的低脂蛋白血症（HDL -胆固醇降低，表示HDL - c）的家族进行复杂分离分析。在这些家庭中，除了多因子传播（H = 0.572）外，还发现了一个频率为q = 0.116的低HDL - c隐性主基因分离的证据。对一组HDL - c严重降低的家庭的重新分析证实了基于原始分析的结论，除了“情感”的不同定义导致基因频率的不同估计。我们对隐性遗传模式的发现不同于先前对显性基因的主张，因为先前的分析没有使用混合模型对低脂蛋白血症进行分离分析。当重要的多因素背景被忽略时，我们也发现了显性基因无效主张的证据。这证明了使用混合模型来确定给定表型的遗传模式的必要性。
Complex segregation analysis under the unified mixed model of inheritance (major gene and multifactorial) is performed on families ascertained through 23 probands with hypoalphalipoproteinemia (depressed HDL‐cholesterol, denoted HDL‐c). Evidence for segregation of a recessive major gene for depressed HDL‐c with frequency q = 0.116, in addition to multifactorial transmission (H = 0.572), is found in these families. Reanalysis of a subset of families with severely depressed HDL‐c confirms the conclusions based on the original analysis, except that different definitions of “affection” give rise to different estimates of gene frequency. Our finding of a recessive mode of inheritance differs from previous claims for a dominant gene because previous analyses did not use a mixed model for segregation analysis of hypoalphalipoproteinemia. When the significant multifactorial background is neglected, we also find evidence for the invalid claim of a dominant gene. This demonstrates the necessity of using mixed models for determining the mode of inheritance of a given phenotype.