Publication details
Characterization of 8kb deletion in the phenylalanine hydroxylase (PAH) gene
| Authors | |
|---|---|
| Year of publication | 2007 |
| Type | Article in Proceedings |
| Conference | Journal of inherited metabolic disease |
| MU Faculty or unit | |
| Citation | |
| Field | Genetics and molecular biology |
| Keywords | phenylketonuria; PKU; PAH; MLPA |
| Description | MLPA analysis was performed in one PKU family from Romania where one mutation was missing. Deletion of exon 6 of PAH gene was detected in the proband. To determine the area of the deletion breakpoint, purified aberrant long-range PCR products were digested with various restriction endonucleases. Fine mapping of the deletion breakpoint was then achieved by using direct sequencing. Breakpoint analysis of the deletion showed loss of 8kb including the entire exon 6. |
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