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2 edition of Characterisation of chromosome 16 rearrangements in patients with alpha thalassaemia found in the catalog.

Characterisation of chromosome 16 rearrangements in patients with alpha thalassaemia

Sharon Wendy Horsley

Characterisation of chromosome 16 rearrangements in patients with alpha thalassaemia

by Sharon Wendy Horsley

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Published by Oxford Brookes University in [Oxford] .
Written in English


Edition Notes

Thesis (Ph.D.) - Oxford Brookes University, Oxford, 2000.

StatementSharon Wendy Horsley.
ContributionsOxford Brookes University. School of Biological and Molecular Sciences.
The Physical Object
Paginationxi, 253 leaves :
Number of Pages253
ID Numbers
Open LibraryOL18542667M

is the Philadelphia chromosome,12 a truncated chromosome 22 that is present in virtually all patients with chronic myeloid leukemia, in approx - imately 20% of patients with acute lymphoblastic leukemia, and in rare cases of acute myeloid leuke - mia. The Philadelphia chromosome is the result of a reciprocal translocation, t(9;22)(q;q),   Cytogenetic studies of the AML patients revealed that 9 patients (5 males and 4 females) were having complex chromosome karyotype. Out of 9 patients 4 patients had AML-M1 subtype, 4 patients with AML-M2 subtype and 1 patient with AML-M5 subtype. Clinical details of patients and cytogenetic and FISH and M FISH results were described in by: 4.

Female with 46 chromosomes with a deletion of chromosome 14 on the long arm (q) at band 46,XY,dup(14)(q22q25) Male with 46 chromosomes with a duplication of chromosome 14 on the long arm (q) involving bands 22 to 46,XX,r(7)(p22q36) Female with .   Apparently balanced chromosomal rearrangements can be associated with an abnormal phenotype, including intellectual disability and autism spectrum disorder (ASD). Genome-wide microarrays reveal cryptic genomic imbalances, related or not to the breakpoints, in 25% to 50% of patients with an abnormal phenotype carrying a microscopically balanced chromosomal by:

  Non-deletional α+-thalassaemia is associated with a higher degree of morbidity and mortality than deletional forms of α+-thalassaemia. Screening for the common deletional forms of α-thalassaemia by Gap-PCR is widely practiced; however, the detection of non-deletional α-thalassaemia mutations is technically more labour-intensive and expensive, as it requires DNA by: When someone has beta thalassemia, there is a mutation in chromosome Beta globin is made on chromosome 11 (beta globin, along with alpha globin, is one of the proteins that makes up hemoglobin). So, if one or both of the genes that tells chromosome 11 4/5(2).


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Characterisation of chromosome 16 rearrangements in patients with alpha thalassaemia by Sharon Wendy Horsley Download PDF EPUB FB2

Characterisation of chromosome 16 rearrangements in patients with alpha thalassaemia. Thesis (Thesis) Find all citations by this author (default).

There are two copies of the hemoglobin alpha gene (HBA1 and HBA2), which each encode an α-chain, and both genes are located on chromosome The hemoglobin beta gene (HBB) encodes the β-chain and is located on chromosome In α-thalassemia, there is deficient synthesis of α-chains. Chromosome 15 abnormalities and the Prader-Willi syndrome: a follow-up report of 40 cases.

Am J Hum Genet. Mar; 34 (2)– [PMC free article] Nakamura Y, Martin C, Krapcho K, O'Connell P, Leppert M, Lathrop GM, Lalouel JM, White R. Isolation and mapping of a polymorphic DNA sequence (pCMM65) on chromosome 16 [D16S84].Cited by: Testing of the alpha globin genes is the only way to determine silent alpha thalassemia trait.

FISH can be performed to determine if there is a large deletion on chromosome 16 in the presence of severe developmental delay; Types of mutations. Most are deletions of the gene(s) About 5% of alpha thalassemia is due to point mutations. In normal individuals, alpha globin genes encoding the alpha globin chains are duplicated and localized in the telomeric region of chromosome 16 (16p ), in a cluster containing also an.

Alpha thalassemia is a blood disorder that reduces the production of obin is the protein in red blood cells that carries oxygen to cells throughout the body.

In people with the characteristic features of alpha thalassemia, a reduction in the amount of hemoglobin prevents enough oxygen from reaching the body's ed individuals also have a shortage of. • The trans form of alpha thalassemia trait (a-/a-) is common in African-Americans (20–30 percent) and people of African descent.

People with the second type of alpha thalassemia trait have 2 missing alpha globin genes on the same chromosome (aa/--). This is called the cis form of alpha thalassemia trait. The role of X-inactivation in the gender bias of patients with acquired alpha-thalassaemia and myelodysplastic syndrome (ATMDS).

Br J Haematol ; Bank A. Understanding globin regulation in beta-thalassemia: it's as simple as alpha, beta, gamma, delta. Infants with ATR syndrome will have a condition called alpha thalassemia minor or trait because the loss of genetic material on chromosome 16 includes one copy of each of these genes.

If they receive a mutation in one of these genes on the other chromos they will develop a form of alpha thalassemia known as hemoglobin H (HbH) disease. The most common of these rearrangements is an inversion of a region of chromosome 16 (written as inv(16)).

An inversion involves breakage of the chromosome in two places; the resulting piece of DNA is reversed and reinserted into the chromosome. Less commonly, a translocation occurs between the two copies of chromosome 16 (written as t(16;16)).

Chromosome rearrangements include inversions, reciprocal translocations, and occasionally other translocations that can have effects on gene expression through position effects (position of a gene on a chromosome).

Chromosome rearrangements can be caused by exposure to radiation, and/or TEs have also been implicated in chromosome rearrangements (Fig. Approximately 80% of the alpha- and 10% of the beta-thalassaemias are caused by genomic deletions involving the alpha- and beta-globin gene clusters on chromosomes 16p and 11p, respectively.

Here we describe an alpha thalassaemia mutation associated with terminal truncation of the short arm of chromosome 16 (within band 16p) to a site 50 kb distal to the alpha globin genes, and. Start studying Ch.

13 - Chromosomal Rearrangements and Changes in Chromosome Number. Learn vocabulary, terms, and more with flashcards, games, and other study tools. D.G. Albertson, in Encyclopedia of Genetics, Chromosome Rearrangements. Holocentric chromosome organization allows the stable propagation of chromosome rearrangements that are not mitotically and meiotically stable in organisms with monocentric chromosomes.

Translocation chromosomes involving two entire holocentric chromosomes align and segregate to a single spindle. GEN LECTURE #16&17 - CHROMOSOME REARRANGEMENTS.

STUDY. PLAY. Categories of Chromosomal Rearrangement. Deletion - segment missing 2. Duplication - segment is repeated 3. Inversion - Change in direction of genetic material along region of chromosome 4.

Translocation - segment of one chromosome becomes attached to a different chromosome. A: The most common disorder of chromosome 16 is tris in which there are three copies of this chromosome instead of the usual pair.

Trisomy 16 is responsible for well overpregnancy losses a year, representing almost 10% of miscarriages in the US. Here we describe an a thalassaemia 10 mutation associated with terminal truncation of the short arm of chromosome 16 (within band 16pl) to a Cited by: The second type of alpha thalassemia trait has two missing alpha genes on the same chromosome (αα/--).

This is called the cis form of alpha thalassemia trait. Both types of alpha thalassemia trait are common in people of Southeast Asian, Southern Chinese, Mediterranean and Middle Eastern descent; however, the cis type of trait is more common. Deletion heterozygotes can "uncover" mutations in the non-deleted chromosome.

Think of the deletion chromosome as hemizygous for the genes in the deleted interval - we can use the deletion chromosome in complementation tests, screens for new alleles, File Size: 63KB. Background: Alpha thalassemia, the most prevalent of all thalassemias, is the deficient or absent production of alpha-globin ly, alpha-globin chains bind with beta-globin chains to form the tetramer aa/bb in hemoglobin A.

The imbalance of alpha- and beta-globin chains creates the pathology in thalassemia.The instructions for beta globin production are on chromos one gene on each chromosome for a total of two. Half of a woman’s genetic information goes into each egg, including one chromosome 11 and one chromosome The same is true in the formation of sperm.

At conception, the total of 46 chromosomes is restored.Alpha thalassemia is divided into deletional and non-deletional types (Tables 1 and 2) There are at least 40 different deletions. The size of the deletion is important and affects the clinical phenotype of hydrops fetalis.

The α globin gene cluster occurs on the short arm of chromosome 16 and includes the α globin genes as well as the embry-Cited by: