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小鼠动物行为学实验设| 服务名称： | 亚甲基四氢叶酸还原酶基因(MTHFR)C677T位突变检测 |
| 规格： | C3491-50UL |
亚甲基四氢叶酸还原酶(MTHFR) 677C→T 基因突变使丙氨酸(A)被缬氨酸(V)取代,导致酶的耐热性和活性减低,血同型半胱氨酸(Hcy) 水平升高,成为心血管病和神经管缺损的独立风险因素。
omim：
.0003 MTHFR THERMOLABILE POLYMORPHISM [MTHFR, 677C-T, ALA222VAL]
Frosst et al. (1995) identified a 677C-T mutation in the MTHFR gene, resulting in an ala222-to-val (A222V) substitution. The alteration created a HinfI site that was used to screen 114 unselected French-Canadian chromosomes; the allele frequency of the substitution was 0.38. The mutation in the heterozygous or homozygous state correlated with reduced enzyme activity and increased thermolability in lymphocyte extracts; in vitro expression of the mutagenized cDNA containing the mutation confirmed its effect on thermolability of MTHFR. Individuals homozygous for the mutation had significantly elevated plasma homocysteine levels. Thus, the 677C-T mutation may represent an important genetic risk factor in vascular disease.
refsnp：
http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?db=human_9606&na=1&gnl=gnl%7CdbSNP%7Crs1801133&RID=DFSHAVDN01S&QUERY_NUMBER=1&log$=nuclalign
检测技术：
采用直接测序技术，结果准确可靠，不需要其他方法验证。
收费：
每个样品 60元。
如果您提供的是抗凝全血，每个样品加收10元，dna提取费。
时间：
每个批次周期3~7工作日。
其他心脑血管检测位点同上。
MTHFR C677T
FGA 6534A/G 2224G/A
FGB - 455G/A -854G/A
FGG 10034C/T 9340T/C
IL6 rs1800796 (G-572C)
NINJ2 rs12425791 rs11833579
CELSR1 rs6007897 rs4044210
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