2016
DOI: 10.1016/j.rmed.2016.05.002
|View full text |Cite
|
Sign up to set email alerts
|

Abstract: The contribution of rare SERPINA1 alleles into AATD should not be neglected in the diagnosis practice given there is a wide spectrum of variants originated by mutation and sometimes shuffled between chromosomes by recombination. Even though many of the rare variants are likely to be recent and population specific others seems to be as old as the Z allele and dispersed across European populations.

Help me understand this report

Search citation statements

Order By: Relevance

Paper Sections

Select...
1
1

Citation Types

2
44
0

Year Published

2016
2016
2022
2022

Publication Types

Select...
9

Relationship

0
9

Authors

Journals

citations
Cited by 52 publications
(46 citation statements)
references
References 69 publications
2
44
0
Order By: Relevance
“…Because codon for Phe52 is located within a small microsatellite with sequence (CTC) 3 , it has been suggested that this sequence is a mutational hot spot and that deletion of codon for Phe52 has repeatedly arisen by strand slippage during DNA replication (5). In this sense, the independent origin of PI*M malton and PI*M palermo allele has been confirmed (2). The PI*Q0 la palma allele could represent a recurrent ΔPhe52 mutation on a PI*S allele.…”
mentioning
confidence: 76%
See 1 more Smart Citation
“…Because codon for Phe52 is located within a small microsatellite with sequence (CTC) 3 , it has been suggested that this sequence is a mutational hot spot and that deletion of codon for Phe52 has repeatedly arisen by strand slippage during DNA replication (5). In this sense, the independent origin of PI*M malton and PI*M palermo allele has been confirmed (2). The PI*Q0 la palma allele could represent a recurrent ΔPhe52 mutation on a PI*S allele.…”
mentioning
confidence: 76%
“…Up to now, the ΔPhe52 variant in the SERPINA1 gene has been detected in the M2 (PI*M malton ), V (PI*M nichinan ) and M1-Val213 (PI*M palermo ) allelic backgrounds (2). Because codon for Phe52 is located within a small microsatellite with sequence (CTC) 3 , it has been suggested that this sequence is a mutational hot spot and that deletion of codon for Phe52 has repeatedly arisen by strand slippage during DNA replication (5).…”
mentioning
confidence: 99%
“…Although serum samples generally result in the recovery of a much smaller amount of DNA than whole blood samples, the quantity of DNA obtained by two rounds of amplification was adequate for sequencing and achieving clear results. In our case, we performed exonic sequencing because most of the mutations described of the SERPINA1 gene are located in exons [26]. However, there are some null variants such as QOMadrid (c.-5+2dupT), QOporto ) that cause mutations located in the regulatory regions of the gene (introns) that affect the mechanisms of transcription and alternative splicing of the SERPINA1 gene [27,28].…”
Section: Discussionmentioning
confidence: 99%
“…In this regard, the two countries to report high levels of novel variant detection are Italy and Portugal. 34,35 Regional variation in the frequency of rare variants is expected, as a small-scale population study in Italy demonstrated that more isolated communities show the highest prevalence of rare variants. 36 Variants such as these would have been missed without incorporation of sequencing into the testing workflow.…”
Section: Standardization and Reliability Of Aatd Diagnosticsmentioning
confidence: 99%