PubMed · 15603452
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Heike Fiegler, Nigel P Carter. 2004. Genomic array technology.. https://doi.org/10.1016/s0091-679x(04)75033-5
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Preimplantation genetic diagnosis (PGD) can provide genetic information on embryos obtained through in vitro fertilization (IVF), allowing implantation of embryos identified as unaffected with a given genetic or chromosomal disorder. With the availability of increasingly sophisticated genetic testing, its use has advanced from the selection of female embryos for the prevention of X-linked genetic diseases to testing for single gene disorders via PCR. Recently, PGD has also been used in the setting of assisted reproductive technology to select for chromosomally normal embryos in an effort to increase the rates of implantation and successful pregnancy. As the number of patients undergoing IVF increases, the indications for its use broadens, and more mutations underlying genetic disorders are identified, PGD is becoming more widespread. As this evolution continues, recognition of the limitations of PGD, as well as ethical concerns regarding use and misuse of this technology, need to be considered by patients, clinicians, and policy makers.
OBJECTIVES: To provide an update on the molecular procedures used increasingly in the study and diagnosis of a variety of dermatologic malignancies and inflammatory disorders and to explore the potential use of these techniques in clinical dermatology. Herein, we review assays such as G-banding, fluorescence in situ hybridization, comparative genomic hybridization, and spectral karyotyping in conjunction with the polymerase chain reaction and DNA microarrays. DATA SOURCES: PubMed was searched for published articles on molecular diagnosis and dermatologic diseases. STUDY SELECTION: All English-language studies were selected if they provided useful methodologic information or highlighted the usefulness of molecular techniques. DATA EXTRACTION: Only methodologic and qualitative information was extracted. DATA SYNTHESIS: The information was synthesized into 2 sections: one describing the principles of different molecular diagnostic techniques, and the other highlighting the contributions of molecular diagnostic techniques to the understanding and diagnosis of several dermatologic diseases. CONCLUSIONS: A basic understanding of the principles of molecular diagnostic techniques is crucial for the practicing dermatologist to benefit from the increasing number of molecular diagnostic articles appearing in the literature and potentially to apply these methods in clinical practice.
The diploid Mexican species S. bulbocastanum (blb) was used as a source of late blight resistance in somatic hybridization with the potato (S. tuberosum, tbr) dihaploid H-8105. The produced 2x blb (+) 2x tbr H-8105 somatic hybrids did not retain the blb parent's characteristic high resistance to P. infestans. The revealed aneuploidy of blb (+) tbr H-8105 hybrids indicated a possible loss of individual blb chromosome(s) carrying the resistance genes. Four hybrid clones differing in terms of their ploidy, morphology and growth potential were analysed for the presence of all twelve blb chromosomes (linkage groups). The RAPD markers assigned to particular chromosomes were selected on the basis of the linkage map of S. bulbocastanum constructed by Naess et al., Mol. Gen. Genom. 265 (2001) 694-704. Of the 86 markers analysed, twelve (14%) were common for blb and H-8105, while 34 (40%) and 40 (46%) markers were specific for the blb and H-8105 genome, respectively; this confirms the differences between the nuclear genomes of the two species. Seventeen markers (20%) present in one or the other parent were absent in the hybrids, and only one new marker was found in the hybrids. The poorly growing, aneuploid and chimeric hybrids had the same band profiles as the well growing, morphologically normal hybrids, except for two bands that were present only in normal hybrids. The presence of eleven blb linkage groups in the blb (+) tbr H-8105 hybrids was confirmed. The markers specific for the second linkage group (chromosome 2) of blb were not present in the RAPD patterns of the somatic hybrids analysed, suggesting a loss or rearrangement of this chromosome in the combined nuclear genome of the hybrids.