Medical Genetics - V. M. Zaporozhan 2005

Prevention of Hereditary Diseases
Diagnostic Methods for Hereditary Pathology in the System of Modern Reproductive Technologies
Genetic Testing of Sperm Donors Used for Artificial Insemination

Today, it is considered appropriate to screen sperm Donors for heterozygous carriage of genes for the most common Monogenic Disorders. These conditions include cystic fibrosis, phenylketonuria, spinal muscular atrophy (Werdnig–Hoffmann disease), and adrenogenital syndrome. It is also advisable to detect Mutations in the GJB2 Gene (13q11-q12), which encodes the connexin Cx26 protein and accounts for more than half of all cases of hereditary non-syndromic deafness.



Last update: 11/08/2026

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