原发性肝细胞癌的分离分析

Segregation Analysis of Hepatocellular Carcinoma

目的 对海门市 10 0个原发性肝细胞癌先证者家系的遗传方式进行研究 ,探讨肝癌可能的遗传模式。方法 应用Li Mantel Gart法和SEGRANB软件进行简单分离分析 ,拟合确认概率π ,分离比 p和散发概率x。用PPAP软件进行综合分离分析 ,估计原发性肝癌可能的遗传模式。结果 Li Mantel Gart法估计的分离比为0 .10 72 46 38,95 %可信限为 0 .0 432 49～ 0 .139898。应用SEGRANB软件 ,以最大似然法拟合的确认概率为0 .2 30 330 3,分离比为 0 .1134 16 1,散发概率为 0 .46 92 795。结果提示肝癌不符合单基因遗传模式。用PPAP综合分离分析结果提示符合多主基因遗传模式 ,估计的基因频率为 3.0 96 75 1× 10 -2 。结论 原发性肝细胞癌不符合单基因遗传模式 ,伴有一定的散发病例 ,是一种多基因遗传病 。

Purpose: To explore the genetic model of hepatocellular carcinoma (HCC) for 100 proband pedigrees from Haimen, China. Methods: The simple segregation analysis was conducted separately with Li-Mantel-Gart method and the SEGRANB computer package. The probability of ascertainment (π), segregation frequency (p) and the proportion of sporadic cases (x) were estimated by SEGRANB. Complex segregation analysis was performed with PPAP software in order to determine probable genetic model of HCC. Results: The segregation frequency estimated using Li-Mantel-Gart method was 0. 107 246 38 (95% CI: 0. 043 249 - 0. 139 898). The probability of ascertainment, segregation frequency and the proportion of sporadic cases was 0. 230 330 3, 0. 113 416 1 and 0. 469 279 5 respectively with maximum likelihood method by SEGRANB. The results suggested that HCC was not compatible with sigle-gene inheritance. The results from complex segregation analysis by PPAP suggested that the genetic mode of HCC could be multiple major gene trait and the probable gene frequency was 3. 096 751 ± 10-2. Conclusions: HCC may follow a multifactor inheritance model rather than a single-gene inheritance and sporadic cases are existent. It could be a polygene desease with multiple major gene effects.