Mutation Analysis of ASXL1 in Normal Karyotype Myelodysplastic Syndromes: Experience From Pakistan
Sumera Shaikh, Nida Anwar, Saba Shahid, Shamim Mushtaq, Naveena Fatima, Saima Siddiqui, Qammar Jammal · 2024
Read Mutation Analysis of ASXL1 in Normal Karyotype Myelodysplastic Syndromes: Experience From Pakistan by Sumera Shaikh, Nida Anwar, Saba Shahid, Shamim Mushtaq, Naveena Fatima, Saima Siddiqui, Qammar Jammal (2024) in the Tower of Babel, a free online library of public-domain works preserved in clean, searchable text. No sign-up. The full text is served as a plain-text file at a predictable URL, where text is present: https://antarctic-labs.com/tower-of-babel/pmc-11683187.txt.
Description
Sumera Shaikh and six co-authors report how often a gene called ASXL1 is mutated in Pakistani patients with myelodysplastic syndromes whose chromosomes look normal, in this 2024 study. These syndromes are blood disorders where the marrow makes faulty cells. Chromosome tests guide outlook, but normal results hide gene-level risks that newer tests can catch.
The team sequenced blood DNA from forty-one patients with normal chromosome results. Mutations in the gene turned up in eight patients, about one in five, mostly forms that cut the protein short. Mutation status did not track clearly with age or blood counts in this small group. The authors urge testing for the mutation at diagnosis, even in low-risk patients, since it can flag a worse outlook early.
Catalog record
| CREATOR | Sumera Shaikh, Nida Anwar, Saba Shahid, Shamim Mushtaq, Naveena Fatima, Saima Siddiqui, Qammar Jammal |
|---|---|
| YEAR | 2024 |
| COLLECTION | PAPERS |
| FORMAT | TXT |
| FILE SIZE | 29 KB |
| VERSION | 1.0 |
| LICENSE | CC BY 4.0 |
| RIGHTS | CC BY |
| SOURCE | Europe PMC |