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Hi,
I am using SRA to confirm some disease mutations in humans in chromosome X that are present as wild type or polymorphisms in the orthologue gene of mammals.
For one specific mutations it appears to be associated with two more mutations, forming an haplotype that may be compensating the disease mutations. My problem is that the males appear as heterozygous, which is impossible. I thought that might be a sequencing erros, but this appears in 4 species.
What can it be?
I am using SRA to confirm some disease mutations in humans in chromosome X that are present as wild type or polymorphisms in the orthologue gene of mammals.
For one specific mutations it appears to be associated with two more mutations, forming an haplotype that may be compensating the disease mutations. My problem is that the males appear as heterozygous, which is impossible. I thought that might be a sequencing erros, but this appears in 4 species.
What can it be?