RFLPs markers

Identify potential RFLP markers for genetic diagnosis. 

Griinig CR et ai. Development of single-copy RFLP markers for population genetic studies of Phialocephala fortinii and closely related taxa, Mycol Res... 

As the genes themselves are identified and sequenced, so the need for RFLP markers declines since specific DNA probes (see Topic 12) for the most common types of gene defect can be employed. In addition, the use of the polymerase chain reaction (PCR see Topic 16) in screening for human genetic disease is becoming the method of choice rather than RFLP analysis since it is much faster to perform and requires far less clinical material for analysis. 

Informative RFLP markers permit the tracking of chromosomes in prior and subsequent generations. Note in Fig. 2 that each child has inherited an RFLP allele from each parent where identical-sized alleles have been inherited, there is usually an increased intensity of hybridization reflecting the difference in allele dosage. 

Intermediate Sublocalization by closely linked and flanking RFLP markers reliable... 

Fig. 3. Linkage analysis of selected RFLP markers associated with neurofibromatosis-1 (NFl) on chromosome 17.

In the analysis of family pedigrees it is usually possible by inspection of RFLP markers to phase or assign each to a specific chromosome. The array of RFLPs constitutes a haplotype unique to that chromosome. For many disorders, even those for which multiple mutations have been defined, within a given population or ethnic group a few specific mutations usually predominate (14). Generally each is associated with a distinctive haplotype of 2 or more RFLP markers. For example, functionally identical intervening sequence 1 splice site mutations in individuals of Mediterranean and Indian bacl round carry completely different RFLP haplotypes (13). Similarly, two RFLP markers proved use-... 

Another approach has been to utilize X chromosome RFLP markers that physically undergo changes in methylation associated with inactivation of the X chromosome (35-37). The RFLP marker enables discrimination of each chromosome, while digestion with restriction enzymes that do or do not digest... 

FIGURE 13.27 Localization of the gene associated with cystic fibrosis (CF) on human chromosome 7. The RFLP markers are given arbitrary names. The location of the CF gene is given relative... 

Using the 10 kb plasmid from the Dr4 mutant described above, pregrowing recipient cells on 0.5 mM FdUrd and selecting directly on DCMU, we have transformed a Chlamvdomonas strain CC-1852) whose chioroplast genome differs with respect to RFLP markers on either side of the psbA gene and lacks the third intron In the coding sequence, in this case, the donor plasmid has... 

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