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Triploidy

Polyploid (in Greek: πολλαπλόν - multiple) cells or organisms that contain more than two copies of each of their chromosomes. Polyploid types are termed triploid (3n), tetraploid (4n), pentaploid (5n), hexaploid (6n) and so on. Where an organism is normally diploid, a haploid (n) may arise as a spontaneous aberration; haploidy may also occur as a normal stage in an organism's life cycle. more...

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Polyploids are defined relative to the behavior of their chromosomes at meiosis. Autopolyploids (resulting from one species doubling its chromosome number to become tetraploid, which may self-fertilize or mate with other tetraploids) exhibit multisomic inheritance, and are often the result of intraspecific hybridization, while allopolyploids (resulting from two different species interbreeding and combining their chromosomes) exhibit disomic inheritance (much like a diploid), and are often a result of interspecific hybridization. In reality these are two ends of an extreme, and most polyploids exhibit some level of multisomic inheritance, even if formed from two distinct species.

Polyploidy occurs in animals but is especially common among flowering plants, including both wild and cultivated species. Wheat, for example, after millennia of hybridization and modification by humans, has strains that are diploid (two sets of chromosomes), tetraploid (four sets of chromosomes) with the common name of durum or macaroni wheat, and hexaploid (six sets of chromosomes) with the common name of bread wheat. Many plants from the genus Brassica also show interesting inter-specific allotetraploids; the relationship is described by the Triangle of U.

Examples in animals are more common in the ‘lower’ forms such as flatworms, leeches, and brine shrimps. Reproduction is often by parthenogenesis (asexual reproduction by a female) since polyploids are often sterile. Polyploid salamanders and lizards are also quite common and parthenogenetic. Rare instances of polyploid mammals are known, but most often result in prenatal death.

Polyploidy can be induced in cell culture by some chemicals: the best known is colchicine, which can result in chromosome doubling, though its use may have other less obvious consequences as well.

Paleopolyploidy

Ancient genome duplications probably characterize all life. Duplication events that occurred long ago in the history of various evolutionary lineages can be difficult to detect because of subsequent diploidization (such that a polyploid starts to behave cytogentically as a diploid over time). In many cases, it is only through comparisons of sequenced genomes that these events can be inferred. Examples of unexpected but recently confirmed ancient genome duplications include the baker's yeast (Saccharomyces cerevisiae), mustard weed/thale cress (Arabidopsis thaliana), rice (Oryza sativa), and an early evolutionary ancestor of the vertebrates (which includes the human lineage) and another near the origin of the teleost fishes. It has also been suggested that all angiosperms (flowering plants) may have paleopolyploidy in their ancestry. Technically, all living organisms probably experienced a polyploidy event at some point in their evolutionary history, as it's unlikely that the first living organisms had more than one stretch of DNA (i.e., one chromosome).

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Detects 77% of aneuploid embryos: PGD may slash miscarriage rate after in vitro fertilization
From OB/GYN News, 8/1/04 by Betsy Bates

RANCHO MIRAGE, CALIF. -- Obtaining a preimplantation genetic diagnosis using a 9- or 10-chromosome screening panel would detect 77% of embryos with aneuploidy, preventing their transfer and thereby reducing the miscarriage rate in patients undergoing in vitro fertilization by almost 50%, Dr. Ruth B. Lathi reported at the annual meeting of the Pacific Coast Reproductive Society.

Aneuploidy is the leading cause of first trimester spontaneous abortion, an event associated with substantial financial and personal hardship in patients trying to bear children using in vitro fertilization (IVF).

Dr. Lathi and her associates at Stanford (Calif.) University reviewed cytogenetic testing results of the products of conception in infertility patients who suffered first trimester losses over a 4-year period.

Patients in the program were routinely offered dilation and curettage and cytogenetic testing; the sample included results from all who agreed.

Among 134 karyotypes tested, 59% were abnormal, the vast majority due to autosomal trisomies. Structural rearrangements, monosomy X, triploidy, and tetraploidy also were found.

The most common sites of aneuploidy were chromosomes 15 and 16, although problems on chromosomes 21, 22, and 18 also were frequent.

Investigators compared the detection rates of aneuploidy by panels employed by various national laboratories that specialize in preimplantation genetic diagnosis (PGD) using fluorescent in situ hybridization (FISH). These panels scan for abnormalities on the following chromosomes:

* 5-probe blastomere biopsy: X, Y, 13, 18, 21.

* 5-probe polar body biopsy: 13, 16, 18, 21, 22.

* 9-probe polar blastomere (Reprogenetics): X, Y, 13, 15, 16, 17, 18, 21, 22.

* 10-probe blastomere (Alfigen): X, Y, 8, 9, 13, 15, 16, 18, 21, 22.

The 5-probe blastomere biopsy would have detected about a third of abnormalities and conceivably would have prevented fewer than 20% of the miscarriages in the sample. The 5-probe polar body biopsy did "slightly better," said Dr. Lathi.

The 9- and 10-probe panels yielded a far more accurate, and identical, result, each detecting 61 of 79 (77%) abnormalities. Using these panels to conduct PGD on embryos in the sample could have reduced the miscarriage rate by 46%.

Similar results were seen when the investigators applied their results to subpopulations: only those infertile patients undergoing IVF, or only those with a history of at least two previous miscarriages.

An important caveat with PGD is that it is not 100% accurate when conducted on day 3 embryos, the researchers noted. Some early embryos that appear abnormal may correct themselves, and even the 9- or 10-probe panels missed abnormalities on other chromosomes, although improved molecular detection techniques may refine future panels offered by PGD laboratories.

Dr. Lathi also acknowledged that opting for PGD adds considerable cost--perhaps 20%-30%--to the IVF process. However, "given the medical and emotional costs of a miscarriage, PGD should be considered for [interested] patients," she said.

Authors of the study reported no conflicts of interest concerning financial support used to fund the study.

BY BETSY BATES

Los Angeles Bureau

COPYRIGHT 2004 International Medical News Group
COPYRIGHT 2004 Gale Group

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