PMID: 23307242

Fang Y, Zhao Q, Ma G, Han Y, Lou N
Investigation on MDR1 gene polymorphisms and its relationship with breast cancer risk factors in Chinese women.
Med Oncol. 2013 Mar;30(1):375. doi: 10.1007/s12032-012-0375-9. Epub 2013 Jan 10., [PubMed]
Sentences
No. Mutations Sentence Comment
38 ABCB1 p.Leu860Phe
X
ABCB1 p.Leu860Phe 23307242:38:803
status: NEW
view ABCB1 p.Leu860Phe details
 This variant is a nonsynonymous mutation, Table 1 Primer pairs, PCR and PCR-RFLP analysis for MDR1 gene SNP Primer sequences Annealing temperature (&#b0;C) Amplification fragment (bp) Region Restriction enzyme Genotype: bp c.3073A [ C 50 -TAGTCTCATGAAGGTGAGTTTTCAG-30 59.0 259 Exon22 MaeIII GG: 185, 74 50 -GTGCTTGTCCAGACAACATTTTC-30 GA: 259, 185, 74 AA: 259 Table 2 Genotypic and allelic frequencies of c.3073A [ C in the studied subjects Groups Genotypic frequencies (%) Allelic frequencies (%) AA AC CC A C Case group (n = 271) 130 (0.4797) 110 (0.4059) 31 (0.1144) 370 (0.6827) 172 (0.3173) Control group (n = 225) 102 (0.4533) 97 (0.4311) 26 (0.1156) 301 (0.6689) 149 (0.3311) v2 = 0.3714, p = 0.8305 v2 = 0.2129, p = 0.6445 resulting in a leucine (Leu) to phenylalanine (Phe) acid replacement (p.Leu860Phe, reference sequences GenBank ID: NG_011513.1, NM_000927.4 and NP_000918.2). Login to comment