| 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 |