| Autor: |
Adnan Yousaf, Huma Hafeez, Muhammad Asim Raza Basra, Mabel L. Rice, Muhammad Hashim Raza, Muhammad Imran Shabbir |
| Jazyk: |
angličtina |
| Rok vydání: |
2024 |
| Předmět: |
|
| Zdroj: |
Children, Vol 11, Iss 9, p 1063 (2024) |
| Druh dokumentu: |
article |
| ISSN: |
2227-9067 |
| DOI: |
10.3390/children11091063 |
| Popis: |
Specific language impairment (SLI) is a developmental disorder with substantial genetic contributions. A genome-wide linkage analysis and homozygosity mapping were performed in five consanguineous families from Pakistan. The highest LOD scores of 2.49 at 12p11.22-q11.21 in family PKSLI-31 and 1.92 at 6p in family PKSLI-20 were observed. Homozygosity mapping showed a loss of heterozygosity on 1q25.3-q32.2 and 2q36.3-q37.3 in PKSLI-20. A loss of heterozygosity mapped, in PKSLI-31 and PKSLI-34 flanks, NFXL1 and CNTNAP2, which are genes previously identified in SLI. Our findings report novel SLI loci and corroborate previously reported SLI loci, indicating the utility of a family-based approach. |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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