Skip to content

#RFLP

2 public questions tagged with this topic.

Which pedigree analysis reveals late-onset disease using RFLP?

Late-onset genetic disorders show phenotype only after certain age, complicating early pedigree analysis because at-risk individuals may appear unaffected. RFLP markers tightly linked to disease gene allow tracking of disease haplotype before clinical onset. Age-specific penetrance models incorporate probability of developing disease by certain age, enabling risk calculation using marker co-segregation in families. Early-childhood mapping applies to pediatric disorders, X-linked inheritance pattern is not specific, SNP hybridization is genotyping method. Combining linkage data with age-dependent penetrance improves predictive accuracy for counseling.

Ref: NCERT Biology Class XII Principles on Klenow fill-in labeling, Lehninger Chapter 9 DNA cloning techniques, and Molecular Cloning by Sambrook Chapter 10 documenting end-labeling of cohesive termini.

The polymorphism detected by RFLP is due to:

Restriction fragment length polymorphism originates when nucleotide substitution, insertion or deletion abolishes or creates a specific recognition sequence for a restriction endonuclease. Digestion then yields fragments of altered length detected by gel electrophoresis or Southern blotting after hybridization with labeled probes. This change segregates in Mendelian fashion as allelic variation inherited codominantly. It does not involve repeat expansion, primer binding differences observed in RAPD, or slippage mispairing responsible for microsatellite instability. Thus, point mutations at restriction sites underlie observed band polymorphism pattern.

Ref: NCERT Biology Class XII Principles on Klenow fill-in labeling, Lehninger Chapter 9 DNA cloning techniques, and Molecular Cloning by Sambrook Chapter 10 documenting end-labeling of cohesive termini.