Chromosome 22

About: Chromosome 22 is a research topic. Over the lifetime, 4384 publications have been published within this topic receiving 205637 citations. The topic is also known as: chr22 & Homo sapiens chromosome 22.

Molecular Structure of Philadelphia Chromosome Positive Leukaemias

Abstract: The Philadelphia chromosome was the first specifıc karyotype abnormality associated with a particular neoplastic disease in humans. The Ph translocation generats a hybrid gene consisting of 5' exon sequences of the bcr gene on chromosome 22 fused to 3' exons and polyadenylation/termination sequences of the ABL proto-oncogene from chromosome 9. The molecular consequence of this translocation is the transcription of chimaeric m RNA and transcribed in a novel 210 kd protein (p 210) in CML, an p 190 kd protein in ALL which retain the tyrosine-kinase activity derived from the ABL sequences. Although the breakpoints on chromoseme 9 can occur over a 200 KB range the breakpoint on chromosome 22 are usually clusteret within a 5 KB sequence designated the breakpoint cluster region. in some Philadelphia positive acute lymphoblastic leukaemias, however, the break in the bcr gene has been shown to lie further 5' such that only the first exon ofbcr is includled in the chimaeric m RNA.

[Y chromosome-related genetic diseases].

Abstract: As a male-specific chromosome, the structure of Y chromosome is complex and lacks of recombination, with numerous repeating, amplifying and palindromic sequences. The research of Y chromosome is difficult and slow since there are few protein coding genes and a large amount of heterochromatin which has caused extreme difficulty for sequencing. In recent years, an increasing number of studies have been focused on the Y chromosome. With the completion of the sequencing of human Y chromosome, the rapid development of sequencing technology, and the composition of DNA sequences in human Y chromosomes and the determination of gene content. This paper has summarized the structural composition and genes function of human Y chromosome, as well as the related hereditary diseases, with an aim to provide reference for Y chromosome-related genetic research.

AFX1 (ALL1 fused gene from chromosome X, 1)

Abstract: Review on AFX1 (ALL1 fused gene from chromosome X, 1), with data on DNA, on the protein encoded, and where the gene is implicated.

Breakpoint Analysis in CML: Potentials for Detection of Minimal Residual Disease

Abstract: Chronic myelocytic leukemia (CML) is a pluripotent stem cell disease characterized by the presence of the Philadelphia (Ph) chromosome in the leukemic cells of 96% of all CML patients. The Ph chromosome is the result of a translocation between chromosomes 22 and 9. The human c-abl oncogene (1) has been mapped to the long (q) arm of chromosome 9 (2). By analysis of somatic cell hybrids, we have shown that this oncogene is translocated to the Ph (22q-) chromosome in Ph positive CML, demonstrating that c-abl is involved in the (9;22) translocation (3). The location of the c-abl oncogene adjacent to the translocation breakpoint in CML was shown by the isolation of a DNA fragment from the 9q+ chromosome of a CML patient: this fragment contained sequences of both chromosome 9 and 22. The breakpoint had occurred 14 kb immediately 5′ of the v-abl homologous sequences and resulted in a 9q+ chromosome in which the tip of chromosome 9, including the v-abl homologous sequences, were replaced by sequences of chromosome 22 (4). The isolated chromosome 22 sequences of this chimeric DNA fragment enabled us to study their role in the Ph translocation in greater detail. A breakpoint cluster region (bcr) was identified on chromosome 22; the DNAs of all (over 30) Ph positive CML patients examined to date have breakpoints in this region of up to 5.8 kb.