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【文章內(nèi)容簡介】 VS1+1G, IVS1+2T)167。 end of the intron:the number of the first nucleotide of the following exon, a minus sign and the position upstream in the intron, . 782A, 781G (when the exon number is known, the notation can also be described as IVS12A, IVS12G)o for deletions, duplications or insertions in single nucleotide (or amino acid) stretches or tandem repeats, the most 339。 copy is arbitrarily assigned to have been changed (. ACTTTGTGCC to ACTTTGCC is described as 7_8delTG)Description of nucleotide changes substitutionsare designated by a “”charactero 76AC denotes that at nucleotide 76 a A is changed to a Co 88+1GT (alternatively IVS2+1GT) denotes the G to T substitution at nucleotide +1of intron 2, relative to the cDNA positioned between nucleotides 88 and 89o 892AC (alternativelyIVS22AC) denotes the A to C substitution at nucleotide 2 of intron 2, relative to the cDNA positioned between nucleotides 88 and 89NOTE:polymorphic variantsare sometimes described as 76A/G, but this is not remened ! deletionsare designated by del after the nucleotide(s) flanking the deletion siteo 76_78del (alternatively 76_78delACT) denotes a ACT deletion from nucleotides 76 to 78o 82_83del (alternatively 82_83delTG) denotes a TG deletion in the sequence ACTTTGTGCC (A is nucleotide 76) to ACTTTGCCo IVS2_IVS5del (alternatives 88+?_923+? or EX3_5del) denotes an exonic deletion starting at an unknown position in intron 2 (after nucleotide 88) and ending at an unknown position in intron 5 (after nucleotide 923) insertionsare designated by ins after the nucleotides flanking the insertion site, followed by the nucleotides insertedNOTE:as separator the ^character is sometimes used but this is not remened (. 83^84insTG)o 76_77insT denotes that a T was inserted between nucleotides 76 and 77o 83_84insTG denotes a TG insertion in the TGtandem repeat sequence of ACTTTGTGCC (A is nucleotide 76) to ACTTTGTGTGCC. Note that this sequence variation (a duplicating insertion) can also be described as a duplication, . 82_83dupTG (see duplications) variability of short sequence repeats, . in ACTGTGTGCC (A is nt 1991), are designated as 1993(TG)36 with nucleotide 1993 containing the first TGdinucleotide which is found repeated 3 to 6 times in the population. insertion/deletions (indels)are descibed as a deletion followed by an insertion after the nucleotides afectedo 112_117delinsTG (alternatively 112_117delAGGTCAinsTG or 112_117TG) denotes the replacement of nucleotides 112 to 117 (AGGTCA) by TG duplicationsare designated by dup after the nucleotides flanking the duplication site,o 77_79dupCTG denotes that the nucleotides 77 to 79 were duplicatedo duplicating insertions in short tandem repeats (or single nucleotide stretches) can also be described as a duplication, . a TG insertion in the TGtandem repeat sequence of ACTTTGTGCC (A is nt 76) to ACTTTGTGTGCC can be described as 82_83dupTG (now 83_84insTG) inversionsare designated by inv
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