Two new mutations in the porphobilinogen deaminase gene and a screening method using PCR amplification of specific alleles |
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Authors: | Gunnel Lundin Anna Wedell Stig Thunell Maria Anvret |
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Institution: | (1) Department of Clinical Genetics, Karolinska Hospital, P.O. Box 60500, S-10401 Stockholm, Sweden;(2) Department of Clinical Chemistry, St. Görans Hospita, Stockholm, Sweden |
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Abstract: | Acute intermittent porphyria (AIP) is attributable to defects in the porphobilinogen deaminase (PBGD) gene. Two new mutations have been found in the PBGD gene in Swedish families. The first is a G to A splice mutation in the last position of intron 9. A screening method using allele-specific amplification has been designed for the rapid detection of this mutation. The second mutation is a C to T substitution in exon 10, changing Arg201 to Trp. This mutation can be detected by restriction enzyme cleavage. |
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