Positional cloning is a technique used in genetic research to identify the location of a gene responsible for a particular trait. The spelling of "positional cloning" is represented by the IPA phonetic transcription as /pəˈzɪʃənəl ˈkloʊnɪŋ/. The first syllable is pronounced with a short "u" sound, followed by a stress on the second syllable with a long "i" sound. The final syllable is pronounced with a short "o" sound and the "ng" sound is pronounced with a velar nasal. Overall, the word is pronounced with a combination of short and long vowel sounds and a mix of consonants.
Positional cloning refers to the technique used in molecular biology and genetics to identify and isolate genes or genetic sequences that contribute to a specific phenotype or disease. It involves a process of narrowing down the genetic location or position of the desired gene on a chromosome, followed by isolating and analyzing the gene of interest.
The first step in positional cloning involves studying families or populations that exhibit a specific trait or disease. Researchers collect DNA samples from affected and unaffected individuals within these populations and use markers, such as genetic polymorphisms or known genes, to identify regions of interest on the genome.
Next, a process known as linkage analysis is performed to narrow down the genomic location of the gene of interest. This is achieved by examining the genetic markers in affected and unaffected individuals and identifying patterns of inheritance that co-segregate with the phenotype.
After the genomic region is narrowed down, a variety of techniques can be employed to isolate the gene itself. These techniques may include chromosome walking, which involves sequencing and analyzing DNA fragments adjacent to the region of interest, or positional candidate cloning, where potential candidate genes are selected based on their biological relevance and expression patterns.
Finally, the identified gene is further characterized and studied to understand its function and role in the phenotype or disease in question. This may involve experimental manipulations, expression analyses, or investigations into protein function.
Overall, positional cloning is a vital tool in gene identification, allowing scientists to pinpoint and study the genes responsible for particular traits or diseases by linking them to specific genomic regions.
The etymology of the term "positional cloning" stems from the combination of two key elements: "position" and "cloning".
1. Position: In genetics and molecular biology, the term "position" refers to the specific location or site of a particular gene or sequence of DNA on a chromosome. The position can be identified using various methods, such as genetic mapping, physical mapping, or comparative genomics, which help determine the chromosomal location of a gene.
2. Cloning: In molecular biology, cloning refers to the process of making identical copies or replicas of a particular DNA sequence or gene. The technique involves isolating and replicating a specific DNA fragment using various molecular biology techniques, such as polymerase chain reaction (PCR).
Combining these two elements, "positional cloning" simply refers to the process of isolating and replicating a specific DNA sequence or gene based on its known chromosomal position.