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Request PDF on ResearchGate | Human Chromosome Variation: Heteromorphism, Polymorphism and Pathogenesis | This new edition now. Download Citation on ResearchGate | Human Chromosome Variation: Heteromorphism and Polymorphism | An initial attempt to assess the. Human Chromosome Variation: Heteromorphism and Polymorphism by Herman E. Wyandt () [Herman E. Wyandt;Vijay Tonk] on

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These loci may also share some mechanisms of muta-tion, with transient single-stranded DNA forming stable secondary structures which promote inter-strand misalignment and subsequent expansions or contractions in repeat number []. The negative signal for the Yq telomeric probe c suggests loss of Yqter on the Y. GC in different regions are not as great as might be implied. This rate is dependent upon the labeled probe concentration in solution number of copies of a specific sequence per unit volume at given time.

The G technique utilizes modi-fied Giemsa staining at an alkaline pH [75] and is useful in the study of human het-eromorphic heterpmorphism and pokymorphism inversions, especially on chromosome 9. The findings led Caspersson et al. The smaller the signal, the more it may vary in variafion and frequency of detection. C-band variants, while fewer in number were found to give at least one variant in every chromosome.

The chroomsome of various fluorochromes and their mechanisms of action have been described by others [63] and will not be described in detail here. Polymorphic alleles of such sites consist of a differing numbers of repeats, also referred to as short tandem repeat polymorphisms STRPs. In another case being tested for Prader-Willi syndrome from heteromorphsim same study Fig.

Some of these techniques revealed additional subclasses of variants [16] so that a complex system of characterizing variants by band intensity and stain-Fig. Mackenzie and Lubs [13] studied variants in 77 normal newborns from Grand Junction, Colorado.

The most common rare site, FRA16B, heteronorphism also been implicated in a num-ber of reports of vagiation at 16q22 in various forms of cancer and leukemia, and was of interest in a recent report of hereditary neutropenia in a mother and daughter [18].


While both require special culture conditions to be expressed, rare sites show up only in certain kindreds and hence are regarded to be heritable vari-ants, whereas common fragile sites can be observed in everyones cells under the right culture conditions.

By in situ hybridization, satellite 1 is localized to the pericentromeric regions pilymorphism chromosomes 3 and 4, and the short arms of the acrocentric chromosomes, both proximal and distal to the rDNA of acrocentric stalk regions.

Frequencies of certain striking variants were found to be discrepant between black and white children Table 3. However, it was not until Sutherland [6] showed that expression of the fragile X required culture in medium that was deficient in folic acid and thymidine that the fragile X in particular was chromosime as a reproducible marker of the disease, and that other fragile sites became of interest as possible markers of disease.

Human Chromosome Variation: Heteromorphism and Polymorphism by Herman E. Wyandt | eBay

Chromosomes 13 and Multiple protein isoforms are encoded by transcript variants of this gene [8,16]. However, more accurate characterization of heteromorphisms de-tected by banding is greatly augmented by the application of molecular cytogenetic techniques.

Dependence on nucleotide sequence of the copy number variations. In a and b chromosomes 15 and Y of the proband and father come from the same metaphase.

Ethidium bromide intercalates into GC rich regions during cell culture, a property that is also used to produce elongated chromosomes for high resolution banding analysis [, ]. The overall frequency of pericentric inversion, inv Y p11q11is approximately per 1, [25], but varies in different populations.

It is also found in the pericentromeric region of chromosome 10 [].

Others are among those reported by Mrasek et al. On the other hand, D15Z1, a satellite III sequence, is usually specific for a variable number of sequences on the short arm of chromo-some Prior routine chromosome analysis had shown an Xp The National Foundation, New York 4.


Segments of chromosomes or entire chromosomes that are either in excess or deleted will have more or fewer green- vs. Kajii T, Niikawa N Origin of triploidy and tetraploidy in man: The most reliable and widely used treat-ment is mild proteolytic digestion with trypsin [39, 40].

Human chromosome variation : heteromorphism and polymorphism

Cases homozygous for a D15Z1 signal on chromosome 14 were also seen at approxi-mately the expected frequency. J Med Genet A total of 2, vari-ants involving chromosomes A1, C9, E16, the short arms and satellites of D and G group chromosomes, and Y long arm were scored.

A section on common and rare fragile sites includes a short historical discussion, definitions and an extensive table of officially recognized sites that includes the HUGO name, chromosomal location, methods of induction, genes and references to the most recent molecular characterization.

Such DNA sequences not polymrphism by standard microscopy typically flank hotspots for duplications and deletions that are associated with genetic dis-ease, many of which are now routinely tested for by high resolution array technolo-gy. In this regard, we owe special thanks to Lauren Jenkins at Kaiser Permanente Medical Group San Josewho provided us with a significant number of examples of chromosome heteromorphisms without which we may never have started. These are probes for sequences kb in length that are immediately adjacent to the telomeres themselves and are specific for each chromosome arm except the short arms of the acrocentric chromosomes [].

A more equal distribution of thymidine in both strands in either euchromatin or heterochromatin without interstrand compositional bias results in both chromatids staining similarly.

Can-cer Genet Cytogenet Scambler PJ 22q11 deletion syndrome: