One missense mutation was found in 48 hypertriglyceridemic patients and identified to be pro207 - leu by sequencing , pedigree analysis of this proband has been carried out and showed that the pro band ' s father is also a carrier of this mutation 征得患者家属的同意和支持，对其家族三代十人进行了完整的家系分析。家系分析显示，先证者的突变来自其父亲的遗传。在外显子6 、 7 、 8中未检出基因突变。
2.
Heredity modes of 6 traits were studied by analysis of population genetics , by the method of family combination analysis , by the methods of proband ' s sib analysis , segregation analysis , the threshold model of polygenes , and analysis of typical family trees , according to the data of the 72 families . the relative importance between genetic and environmental effect on each character was evaluated by comparing the coherence of twins . gene frequencies of 5 genetic characters , calculated from han group in huhhot , were compared with other groups by u - test so as to study the population or nationality difference in heredity 采用群体遗传学分析、家系组合分析法、先证者同胞法、分离分析法及多基因阈值模式分析方法对所得家系资料进行了统计学分析，结合家系系谱分析探讨了上述6项特征的遗传方式；通过双生子一致率的比较，对上述特征的遗传与环境效应的相对重要性进行了评价；计算了呼和浩特市汉族群体5对遗传性状的基因频率，采用u检验方法与相关文献报道的其他群体进行了比较，探讨了不同种族间或民族间的遗传差异性。
3.
The individuals of rhd - positive phenotype with intact exons carried generally insert fragments and boxl box2 and box3 and this proved that inserts or rh box could n ' t affect the express of rh d gene . in 2 of the 5 wei nationality pedigrees whose proband were rh d - negative , rhc / e phenotype of all the rh negative individuals was ccee . rhd exon 4nsert and rh box did not be found in all individuals 在7个先证者为rhd阴性的汉族家系中，大部分成员均出现插入片段和rhbox ，且在遗传上符合孟德尔遗传定律， d外显子完整且表型为rhd阳性的家系个体成员广泛带有插入片段和box1 、 box2或box3 ，插入片段或rhbox并未影响d基因的表达。
4.
In 82 cases of rh d serology negative individuals with rh c / e typing for cc or cc was 20 , of which 9 carried intact exons , 6 carried partial deletion exons , and 5 was total deletion . ( 3 ) inseit fragments and rh box were detected in most of cases in 7 han nationality pedigrees which proband were rh d - negative , and intheritance accorded with the mendel ' s law 检测82例rhd血清学阴性个体中， c e型为cc或cc有20例，其中完整携带rhd基因外显子者为9例，部分携带者为6例，完全缺失者为5例。
