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For example, a human cell has 46 chromosomes. In the karyotype, 23 pairs of chromosomes will be shown (23 x 2 = 46). A karyotype can show different types of mutations, depending on which chromosome it affects.For example, Down Syndrome is a trisomy in chromosome 21, so there will be THREE instead of two chromosome 21s. You can research more mutations shown by chromosomes in a karyotype.or example, a human cell has 46 chromosomes. In the karyotype, 23 pairs of chromosomes will be shown (23 x 2 = 46). A karyotype can show different types of mutations, depending on which chromosome it affects.
Arg677stop and 2280del5 are the much studied RP1 mutations. 1  Autosomal Recessive retinitis pigmentosa â these are rarer genetic mutations. RPE65 (expressed in the RPE), and PDE6A and PDE6B cause 2-5% of cases and mutations in USH2A may account for up to 5% of autosomal recessive cases. X-Linked retinitis pigmentosa â in this type common mutations are seen in RPGR (also called RP3) and RP2 genes. They account for 70-90% and 10-20%, respectively of all X linked cases. Mitochondrial Genes Causing Nonsyndromic retinitis pigmentosa include mutations in the MT-TS2. Digenic retinitis pigmentosa â this is caused by combined presence of a mutation in the RDS gene and a mutation in the ROM1 gene.