Codon 124 of the BIGH3 gene appears as a mutation hot spot also in German families with CDL1 and CDA. Indirect mutation analysis with restriction digestion is suggested as first step investigation in families with relevant corneal dystrophies. Direct sequencing of all exons is recommended as a second step if there are no results in restriction digestion.
Prenatal diagnosis of a pregnancy at risk for alpha-1-antitrypsin deficiency was performed by oligonucleotide probe analysis using M- and Z-specific oligonucleotides. The result was confirmed by the alternative approach utilizing restriction fragment length polymorphisms. Application of oligonucleotide analysis requires only fetal tissue if proteinase inhibitor types are accurately determined within the family. Our modified protocol is easy to carry out and is practicable in all laboratories where the Southern blot procedure has been established.
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