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#probes

2 public questions tagged with this topic.

Which two probes help identify GAG to GTG mutation?

Detecting single-base sickle cell mutation GAG to GTG requires discrimination of one nucleotide difference. Approach uses two allele-specific oligonucleotide probes, one perfectly complementary to normal allele containing GAG codon and another complementary to mutant allele containing GTG. Under stringent hybridization, only fully matched probe-target duplex remains stable and yields signal. Heterozygotes show both signals, homozygotes one signal. Restriction enzyme or generic STR analysis cannot achieve single-base specificity. Paired complementary probes enable precise molecular diagnosis of point mutations via hybridization patterns.

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.

Which probe type will distinguish homozygous from heterozygous individuals?

RFLP genotyping requires a probe that actually spans the variable restriction site to differentiate alleles reliably on Southern blot. Coding probes hybridizing far away may detect fragments independent of polymorphism, missing variation. Intron or flanking probes outside restriction region might not cover site-containing junction. A polymorphic probe designed across the restriction site junction recognizes sequences that are cleaved in one allele but remain intact in another, yielding distinct band sizes. Such allele-specific hybridization enables discrimination of homozygous normal, homozygous mutant, and heterozygous individuals, essential for linkage analysis and disease diagnosis applications.

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.