Question

A mutation in the wdr62 gene causes microcephaly.  (The mutation is a deletion of 4bp.)  If microcephaly seems to be autosomal recessive, what would you expect if you sequenced a trio including another child with microcephaly?

Answer 1

When sequenced, the total base pairs present in the DNA would be known as a single strand read. As microcephaly is an autosomal recessive gene mutation which is due to a 4bp deletion in the wdr62 gene, then when this gene is sequenced, the strand will have 4bp less than the original wild type gene. If a trio including a child with microcephaly were to be sequenced then, if the trio contained wild type genes, the sequence will be a wild type wdr62 gene with its normal length and if heterozygote individual were to be sequenced then one strand will be same as wild type but the other strand will have a 4bp deletion and as stated earlier, the microcephaly child will have both of its strand with 4bp deletion.

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