亚甲基四氢叶酸还原酶基因(MTHFR)C677T位突变检测

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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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