Informatics And Criminal Law: Crimes Related To Informatics

Monilethrix, an autosomal dominant hair disorder, was characterized by a beaded hair appearance due to shaft thinning, leading to hair fragility and patchy dystrophic alopecia. The study identified two novel heterozygous point mutations in exon 7 of the hHb6 gene in two unrelated patients, affecting the first base of codon 402. In patient A, a G to C transition resulted in a glutamine substitution (E402Q), while in patient B, a G to A transition led to a lysine substitution (E402K). These mutations were not present in unaffected relatives and were absent in the normal population, indicating their role in the disorder. The mutations disrupted a Taq I restriction site, allowing for diagnostic confirmation through restriction fragment length polymorphism analysis.