并且，种群中已有抗性纯合子个体存在。
有发现突变纯合子。
纯合子是致命的。
目的：研究家族性高胆固醇血症纯合子患者的发病机理。
Objective: To study the pathogenesis of a homozygous patient with familial hypercholesterolemia.
目的探讨纯合子定位法在罕见常染色体隐性遗传病致病基因精确定位中的作用。
Objective To evaluate the role of homozygosity mapping in the fine mapping of the genes responsible for the rare autosomal recessive diseases.
STR分型表现为杂合子或纯合子的等位基因用此方法测序都得到了清晰的信号。
Good signals had been obtained, no matter the alleles showed homozygotes or heterozygotes on STR genotyping.
这两种选择可用于治疗儿童该病非常严重纯合子形式。方式之一是进行LDL单采。
The two options available to us for treating children with very severe homozygous form of the disease are to one either perform LDL apheresis.
纯合子突变小鼠在各个胚胎时期都有预期中的出现比例，在大小与型态上并没有明显的缺陷。
Homozygous mutant mice showed expected ratio and no obvious defect in sizes and morphologies at all embryonic stages examined.
结果显示，纯合子和杂合子的单核苷酸多态性的最终精度分别达到99.62%和98.39%。
RESULTS: The final accuracy for homozygous and heterozygous single-nucleotide polymorphisms reached 99.62% and 98.39%, respectively.
该位点出现在40%以上的人群中，其与纯合子风险增大40%以及杂合子风险增大20%的现象相关。
This locus occurs in over 40% of the population and is associated with increased risk of 40% in homozygous and 15 to 20% in heterozygous.
虽然纯合子人群有遗传肥胖风险，但他们只要饮食中脂肪含量小于总能量的百分之四十一，他们大部分就不会肥胖。
“Yes, for those who had a diet where less than 41 percent of the energy consumed came from fat, obesity was not more common, in spite of the inherited risk” says Emily Sonestedt.
按照吸烟特点进行亚组分析：在等位基因比较、纯合子比较、隐性遗传模型和显性遗传模型下，都没有发现吸烟与肺癌有显著关联。
In the subgroup analysis stratified by smoking status, no association of smoking was found between 12139c allele and lung cancer under different genetic models.
然而大部分(90%)的纯合子突变小鼠都在出生后24小时以内陆续死亡。其中63%的肠胃都出现有严重的气体胀大与缺乏奶水。
However, most (90%) of homozygous mutant mice die within 24 hours after birth, and 63% of them show severe air dilatation and lack milk in stomach and intestine.
过碘酸-雪夫（PAS）染色时，门脉周围的红色玻璃样小球是α-1-抗胰蛋白酶缺乏症（pi-ZZ纯合子基因型患者）的特征表现。
The periportal red hyaline globules seen here with periodic acid-Schiff (PAS) stain are characteristic for alpha-1-antitrypsin deficiency (a person with homozygous pi-ZZ genotype).
结果表明，家猪13／17罗伯逊易位染色体的遗传符合孟德尔遗传规律，且具有稳定的遗传性。13／17 易位纯合子互交后代仍然为13／17 易位纯合子；
The results revealed that the inheritance of 13/17 Robertsonian translocation chromosomes was in accordance with Mendel' s law of inheritance and possessed stable inheritance.
结果表明，家猪13／17罗伯逊易位染色体的遗传符合孟德尔遗传规律，且具有稳定的遗传性。13／17 易位纯合子互交后代仍然为13／17 易位纯合子；
The results revealed that the inheritance of 13/17 Robertsonian translocation chromosomes was in accordance with Mendel' s law of inheritance and possessed stable inheritance.
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