Sentences with phrase «nucleotide change by»

Not exact matches

Alpha -1-antitrypsin deficiency (A1ATD) is the most common genetic disease of the liver, and is caused by a single nucleotide change in the gene that codes for alpha -1-antitrypsin (A1AT), an enzyme inhibitor that normally protects bodily tissues.

To generate the models, Jackson created two mutated versions of the PrP - coding gene by changing a single codon — one of the three - nucleotide «words» in genes that code for the various amino acids in proteins.

Their trouble with language had been caused by the change of a single nucleotide of DNA — just one letter in the genetic sequence.

The researchers began by confirming that the mouse mutation occurs in a region that is similar, or homologous, to where the single nucleotide change occurs in humans.

In this case, the change is subtle: A single nucleotide called an adenine is replaced by another called a guanine on human chromosome 12.

They discovered that earwax type was determined by a change in just one DNA nucleotide in a gene called ABCC11, which was previously found to code for a protein involved in transporting molecules across cell membranes.

This construct was used to introduce the corresponding human FOP mutation R206H and the constitutive active variant of the receptor Q207D by Site - Directed Mutagenesis (QuikChange, Stratagene) using the following primer pairs (with lower - case letters indicating the nucleotides changed relative to wild - type Acvr1 sequence): R206H - chAcvr1 - fwd, 5 ′ - GCAAAGAACAGTGGCTCaCCAGATCACGCTTGTGG - 3 ′ and R206H - chAcvr1 - rev, 5 ′ - CCACAAGCGTGATCTGGtGAGCCACTGTTCTTTGC - 3 ′; chAcvr1 - ca - Q207D - fwd, 5 ′ - GCAAAGAACAGTGGCTCGCgAcATCACGCTTGTGGAGTG - 3 ′ and chAcvr1 - ca - Q207D - rev, 5 ′ - CACTCCACAAGCGTGATgTcGCGAGCCACTGTTCTTTGC - 3 ′).

The largest numbers of variants identified by genome - wide association are copy - number changes, which have a greater phenotypic effect than do single nucleotide polymorphisms.

As expected, the mutational spectrum was enriched for G - > T and C - > A changes associated with adduct formation on guanine nucleotides induced by benzopyrene, the chemical mutagen found in tobacco smoke.

Derivatives of this basic construct included removal of the alternative exon 4 by deleting an Nhe I / Apa I fragment (nucleotides 12,259 — 12,543; Figure 3D); replacement of the genomic region covering exons 2 — 6 with the corresponding cDNA sequence (Sal I to Nco I; nucleotides 14,412 — 11,736; Figure 3E) plus additional upstream sequence to allow for recombination with F56B12 (to the Xho I site at nucleotide 15,574); and introduction of a Met to Leu mutation (M121L, ATG to CTG) by PCR amplification with primers that included the sequence change (nucleotides 11,968 — 11,970; Figure 3F).