PAH gene

 | Post date: 2017/01/11 | 

DNA Controls

According to the importance of prenatal diagnosis in molecular genetics and the possession of wide category of disease-causing mutations for different types of disease through years of prenatal diagnosis in human genetics laboratory of Dr. Zeinali, Kawsar Biotech Company has decided to offer positive DNA controls for PCR purposes.

A positive control may be necessary, when amplifying a new target sequence to confirm whether the primer set or primer–probe set works it can also be an absolute standard, which is a nucleic acid template of known quantitative information and absolute standard and used only to test for the presence or absence of a target. These DNAs have been extracted from immortalized lymphocytes with EB viruses.

Human genomic control DNA for PKU- PAH gene
Name Cat. No Phenotype Genotype
KBC Normal DNA K5200 Homozygote Normal Normal/Normal
KBC mutant DNA K5201 Heterozygote IVS10-11 G>A / N
KBC mutant DNA K5202 Heterozygote IVS2+5 (G>C) / N
KBC mutant DNA K5203 Heterozygote Cd 281 CCT>CTT(Pro>Leu)  / N
KBC mutant DNA K5204 Heterozygote Cd 300 GCC>TCC (Ala>Ser) / N
KBC mutant DNA K5205 Heterozygote IVS 4+1 (G>C) /N
KBC mutant DNA K5206 Heterozygote IVS 9+5(G>A) /N
KBC mutant DNA K5207 Heterozygote Cd 261 CGA>CAA (Arg>Gln) /N
KBC mutant DNA K5208 Heterozygote IVS 4+5(G>T)  / N
KBC mutant DNA K5209 Heterozygote IVS 11+1 (G>C)/N
KBC mutant DNA K5210 Heterozygote Cd 48 TTG>TCG(Leu>Ser) / N
KBC mutant DNA K5211 Heterozygote Cd 204 TAT>TGT (Tyr>Cys) / N  or   IVS6-96 A>G/N
KBC mutant DNA K5212 Homozygote IVS 10-11 G>A / IVS10-11 G>A
KBC mutant DNA K5213 Homozygote Cd390 GAG>GGG(Glu>Gly)/Cd390 GAG>GGG(Glu>Gly)
KBC mutant DNA K5214 Homozygote IVS 2+5(G>C) / IVS2+5(G>C)
KBC mutant DNA K5215 Homozygote Cd 261CGA>CAA (Arg>Gln) / Cd 261CGA>CAA (Arg>Gln)
KBC mutant DNA K5216 Homozygote IVS 4+5(G>T) / IVS 4+5(G>T)
KBC mutant DNA K5217 Homozygote Cd 261(CGA>TGA Arg>Stop)/ Cd 261(CGA>TGA Arg>Stop)
KBC mutant DNA K5218 Compound heterozygote Cd 252 CGG>TGG(Arg>Trp) /IVS2+5(G>C)
KBC mutant DNA K5219 Homozygote Cd 204 TAT>TGT/ Cd 204 TAT >TGT
KBC mutant DNA K5220 Heterozygote Cd 243 CGA>TGA /N