突变位点经限制性内切酶分析证实。
Restriction enzyme site analysis was used to confirm the mutation.
其中16个突变位点未见过报道。
The mutations at 16 positions were found for the first time.
G3635A突变位点是3个家系的分子遗传致病基础。
It showed that G3635A mutation was the pathogenic molecular basis for those patients.
结论本类脂质蛋白沉积症家系存在新的ECM 1基因突变位点。
Conclusion a new compound heterozygous mutation of ECM1 gene was identified in this LP family.
目的对小睑裂综合征家系患者的FOXL2基因突变进行研究，寻找突变位点。
Objective To screen mutations in the forkhead transcriptional factor 2 gene (FOXL2) in six Chinese families with blepharophimosis, ptosis, and epicanthus inversus syndrome(BPES).
本研究从HBV基因突变入手，进一步探讨可能与宫内感染发生有关的突变位点。
Some gene position's mutation might have association with the HBV intrauterine infection.
本病有家族遗传倾向，遗传学研究呈非单一性遗传特点，其致病基因及突变位点表现多样。
The disease has a familial hereditary tendency, genetic research shows a non-singleness genetic character, and the manifestations of its pathogenic gene and mutation site are various.
结果经序列比对发现突变位点较多发生在UTR区域，同时一些基因的编码区域也发生蛋白序列的变化。
Results it was found by sequence contrast that some mutation sites occurred mainly on UTR region, and a lot of protein sequences changed according to changes of genes coding region.
目的研究中国人家族性肥厚型心肌病(HCM)的致病基因突变位点，分析基因型与临床表型的相互关系。
Objective to study the disease-causing gene mutations in Chinese hypertrophic cardiomyopathy (HCM) and to reveal the relationship between the genotype and the phenotype.
结果：对照组和苯酮尿症组该突变位点的基因频率分别为70.2％和79.5％，经统计学检验无显著性差异。
Results: the mutation frequency of V245V in the control group and PKU group was 70.2 % and 79.5 % respectively. There was no significant difference between the two groups.
此外，与其他已报道人群数据进行比较表明，吐尔基山辽墓主人与现代外蒙古人群遗传距离最近，其5个突变位点均为蒙古人的突变热点。
Besides, it showed that Turki had closest relationship with modern out Mongolia contrasted with the reported populations. And the 5 mutation sites of Turki were all hot mutation sites of Mongolian.
本研究结果初步表明HIOMT基因T/C突变位点的C等位基因是一个潜在有效的DNA标记，能够在一定程度上控制山羊的产羔性能。
These results preliminarily indicated that allele C of T/C polymorphic site of HIOMT gene is a potential DNA marker for improving litter size in goats.
将核酸序列转换成氨基酸序列后，黄牛表现的遗传差异更小，18个个体分享5种氨基酸序列单倍型，共有6个氨基酸突变位点，8个突变氨基酸。
While translated to Amino acids sequences, Yellow showed little genetic variation. 18 individuals belong to only 5 haploids, and only 6 sites of AA mutation causing 8 AA mutations exist.
将核酸序列转换成氨基酸序列后，黄牛表现的遗传差异更小，18个个体分享5种氨基酸序列单倍型，共有6个氨基酸突变位点，8个突变氨基酸。
While translated to Amino acids sequences, Yellow showed little genetic variation. 18 individuals belong to only 5 haploids, and only 6 sites of AA mutation causing 8 AA mutations exist.
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