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Alpha-thalassemia trait can exist in two forms: [1] Alpha-thal-1 (- -/α α), involves cis deletion of both alpha genes on the same chromosome. Higher incidence in people of Asian descent when compared with the general population. Alpha-thal-2 (- α/- α), involves trans deletion of alpha genes; this occurs on different (homologous) chromosomes ...
Alpha-thalassemia (α-thalassemia) is defined by a lack of α-globin chain production in hemoglobin, and those who carry a mutation impacting the α-globin chain on only one chromosome are considered to have a “silent” α-thalassemia whereas, if the mutation is on both then it is considered an α-thalassemia trait.
The α-globin chains are encoded by two closely linked genes on chromosome 16; β-globin chains are encoded by a single gene on chromosome 11. [28] Thus, in a healthy person with two copies on each chromosome, two loci encode the β chain, and four loci encode the α chain. Deletion of one of the α loci has a high prevalence in people of ...
3039 15122 Ensembl ENSG00000206172 ENSMUSG00000069919 UniProt P69905 Q91VB8 RefSeq (mRNA) NM_000558 NM_008218 RefSeq (protein) NP_000508 NP_000508.1 NP_000549.1 NP_001077424 Location (UCSC) Chr 16: 0.18 – 0.18 Mb Chr 11: 32.23 – 32.23 Mb PubMed search Wikidata View/Edit Human View/Edit Mouse Hemoglobin subunit alpha, Hemoglobin, alpha 1, is a hemoglobin protein that in humans is encoded by ...
ATR-16 syndrome is caused by a deletion of part of chromosome 16, from p13.3 (a band on the short end of the chromosome) to the end of the chromosome. These can either be due to a balanced translocation or a de novo deletion. [1] The genes affected include hemoglobin, alpha 1 (HBA1) and hemoglobin, alpha 2 (HBA2). [2]
Table 1: α represents the presence of α-globin gene and- represents the deletion of α-globin gene. [6] The chance of a fetus developing Hemoglobin Bart's hydrops fetalis is dependent upon if one or both parent carries the alpha-thalassemia trait. Due to this disease being incompatible with life, diagnosis for it is done prenatally. [7]
The genotype of healthy individuals with four normal copies of α-globin is annotated as αα/αα. In individuals with deletional Hb H disease, there is deletion of three of the four α-globin alleles, which is annotated as --/-α. [3] Non-deletional Hb H disease refers to a decreased alpha-globin that has not occurred as a result of the ...
Unequal crossing over is a type of gene duplication or deletion event that deletes a sequence in one strand and replaces it with a duplication from its sister chromatid in mitosis or from its homologous chromosome during meiosis. It is a type of chromosomal crossover between homologous sequences that are not paired precisely. Normally genes are ...