Attgactgttagct Attgagctgttagct

22 35

"c.26_27insG"

Inversion

Inversion between nucleotides 26 and 32

Change

ATTGACTGTTAGCT -► ATTGATTGTCAG CT

22 35

"c.26_32inv"

Deletion/insertion

Nucleotides 24 to 31 (TGACTGT) deleted and replaced by CC

Change

ATTGACTGTTAGCT -^ ATCCTAGCT

22 35

"c.24-31delinsCC"

or "c.24 31delTGACTGTinsCC"

Translocation t(X;4)(p21.2;q35)(c.857+101_857+102)

Translocation breakpoint involving intronic sequence between 101 and 102 bp after coding nucleotide 857 which results in joining chromosomes Xp11.2 and 4q34

> denotes a substitution _ denotes a range of affected residues

'c.' coding DNA sequence, e.g. 'c.76A>T ' (A to T substitution) 'g.' genomic DNA sequence, e.g. 'g.476A>T' (A to T substitution) 'r.' refers to RNA, e.g. 'r.76a>u' (A to U substitution) 'p.' refers to protein, e.g. 'p.Lys76Asn' (lysine to asparagine) A : adenosine C : cytosine G : guanine T : thymine

Figure 1.16 Continued

Sequence change by allele

Change

Homozygous A to T substitution ATTGACTGTTAGCT -ATTGTCTGTTAGCT

at nucleotide 26 22 35 Change

ATTGACTGTTAGCT -^ ATTGTCTGTTAGCT

22 35

Change

A to T substitution at nucleotide 26 is ATTGACTGTTAGCT -ATTGTCTGTTAGCT

22 35

present on one allele, unknown on other

ATTGACTGTTAGCT -► ATTGXCTGTTAGCT

22 35

A to T substitution at nucleotide 26 is present on one allele, 'normal' on other

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