Genetics of male infertility

Breda Genetics panel recommended for this condition: Pan73 - Male infertility (AK7, AR, ARMC2, AURKC, AZF, BRDT, C14ORF39, CATSPER1, CATSPER2, CEP112, CFAP43, CFAP44, CFAP58, CFAP58, CFAP65, CFAP69, CFAP70, CFAP91, CFTR, DEFB126, DEFB128, DNAH1, DNAH17, DNAH2, DNAH8, DPY19L2, DZIP1, FANCM, FSHR, FSIP2, HSF2, KLHL10, LHCGR, M1AP, MAATS1, MEIOB, MSH4, MSH5, NANOS1, NR5A1, PICK1, PLCZ1, PLK4, PMFBP1, […]

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Semi-dominance and rare disorders

The first studies on inheritance were conducted by Gregor Mendel, the father of Genetics. He discovered that phenotypic traits (e.g. hair or eye color) where defined by the genes (DNA). Each gene has two alleles, one inherited from the mother and one inherited from the father. These alleles may be identical (homozygous alleles) or different […]

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Incomplete penetrance

Typical of autosomal dominant transmission What’s incomplete penetrance? When is it more common? Sometimes a patient harboring a disease-causing genetic mutation remains totally asymptomatic for their whole life. This is due to a genetic phenomenon known as incomplete penetrance. Incomplete penetrance occurs mainly in autosomal dominantly inherited disorders. The definition of penetrance is consistent with the percentage of subjects […]

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