A child is diagnosed with a novel metabolic disease.In an interview with the parents, the clinician learns that the symptoms exhibited by the child are commonly found within the extended family.The clinician is able to obtain blood samples from all of the afflicted members of the extended family, as well as multiple unafflicted members.Which technique would be most appropriate to identify the gene of interest?

Question

Quizplus · Accepted Answer

Linkage analysis is the most appropriate technique in this scenario because the symptoms are known to be common within the extended family, suggesting that the disease is inherited. Linkage analysis detects chromosome segments that are co-inherited with the disease phenotype in a family. By comparing the genotypes of affected and unaffected family members, the genetic region responsible for the disease phenotype can be identified. This technique has been widely used for Mendelian diseases, which are caused by mutations in a single gene. Genome-wide association studies (GWAS) and whole-exome or whole-genome sequencing are other approaches that can be used for identifying the genetic basis of complex diseases, but they are less suitable for identifying the gene of interest in this scenario.

A Child Is Diagnosed with a Novel Metabolic Disease