Table 2. Exons of male brother to detect MSH5, PLCZ1 mutation sites.
Gene Name Chromosome location Nucleic acid changes Amino acid change Exon
Introns
Heterozygosity Diseases and genetic patterns Pathogenicity
MSH5 chr6:g.31727290G c.1495+1G>T NA INTRO Hybridization Premature ovarian failure type 13,
autosomal recessive inheritance
Suspected to be pathogenic
PLCZ1 chr12:g.18837072A>G c.1733T>C p.M578T Exon 14 Hybridization Type 17 spermatogenic dysfunction, autosomal recessive inheritance Clinical significance unclear
PLCZ1 chr12:g.18872463C>G c.471G>C p.M157I Exon 5 Hybridization Type 17 spermatogenic dysfunction, autosomal recessive inheritance Clinical significance unclear