查询词典 uroscopy

The result of uroscopy of the proband was strong positive. There was a novel deletion mutation of c.876-877 del TC in the coding region of exon 6 of IDS gene, which was a hemizygous mutation. However, the mutation of his mother and sister was a heterozygous mutation. Detection of the exon 6 of IDS gene showed that the mutation was not found among normal controls and other patients with MPS I, IV, and VI other than MPS II. Homology comparison of amino acid sequences from different species showed that the phenylalanine glutamine of the mutation site of c.876-877 del TC located in p.292-293 was highly conserved. The activity of IDS enzyme of the proband was only 2.3 nmol/4 h/mL, which was much lower than normal; but the activity of IDS enzyme of his father, mother and sister was 641.9 nmol/4 h/mL, 95.8 nmol/4h/mL and 103.2 nmol/4h/mL, respectively.

结果显示：先证者尿检呈强阳性；其IDS基因exon 6编码区内存在c.876-877 del TC新缺失突变，为半合子突变，而其母、其姐为杂合突变；正常对照和其他非II型MPS患者的IDS基因exon 6的检测结果均未发现该突变；不同物种氨基酸序列的同源性比对显示： c.876-877 del TC突变所在的位置即p.292-293的苯丙氨酸谷氨酰胺高度保守；酶活性测定的结果显示：先证者的IDS酶活性仅为2.3 nmol/4 h/mL，大大低于正常值，而其父的为641.9 nmol/4 h/mL，其母的血浆酶活性为95.8 nmol/ 4h/mL，其姐的为103.2 nmol/4 h/mL。

In the United States, chronic alcoholism and hepatitis C are the most common ones.

在美国，慢性酒精中毒，肝炎是最常见的。

If you have any questions, you can contact me anytime.

如果有任何问题，你可以随时联系我。