Thesiss

SMA (spinal muscular atrophy) is the leading inherited cause of infant mortality, with an estimated incidence of one in 6,000 to 10,000 live births and a carrier frequency of 1/30 to 1/50 in populations of European and Asian ancestry. SMA has been thought of as a pan-ethnic dise…

In addition to the sex-determining gene SRY and several other single-copy genes, the human Y chromosome harbors nine multi-copy gene families which are expressed exclusively in testis. In humans, these gene families are important for spermatogenesis and their loss is observed in…