动物遗传学遗传信息的改变

Cri du chat syndrome
(duplication)
1
12
3456
12
3434 56
12
34 4356
1 34 2
3456
12
34 ab
56
22-
2
3 -
4
inversion 180
1
A pericentric inversion B
2
reciprocal translocation
Robertsonian translocation
3
4
Philadelphia Chromosome
This person has 46 chromosomes with a translocation of material between chromosome 9 and chromosome 22 (commonly known as the Philadelphia chromosome). Detailed studies of the Philadelphia chromosome show that most of chromosome 22 has been translocated onto the long arm of chromosome 9. In addition, the small distal portion of the short arm of chromosome 9 is translocated to chromosome 22. This translocation, which is found only in tumor cells, indicates that a patient has chronic myelogenous leukemia (CML). In CML, the cells that produce blood cells for the body (the hematopoietic cells) grow uncontrollably, leading to cancer.
(paracentric inversion)Βιβλιοθήκη 2 3 3
translocation reciprocal translocation(simple translocation) (Robertsonian translocation)
1
simple translocation reciprocal translocation Robertsonian translocation
1
2
-- breakage-fusion-
bridge,BFBa
3
3
psedo dominant
Williams Syndrome is caused by a very small chromosomal deletion on the long arm of chromosome 7. The deleted region includes the elastin gene, which encodes a protein that gives blood vessels the stretchiness and strength required to withstand a lifetime of use. The elastin protein is made only during embryo development and childhood, when blood vessels are formed. Because they lack the elastin protein, people with Williams Syndrome have disorders of the circulatory system, also known as vascular disorders.
The connection between this chromosomal abnormality and CML was clarified by studying the genes located on the chromosomes at the sites of the translocation breakpoints. In one of the translocated chromosomes, part of a gene called abl is moved from its normal location on chromosome 9 to a new location on chromosome 22. This breakage and reattachment leads to an altered abl gene. The protein produced from the mutant abl gene functions improperly, leading to CML.
DNA (chromosomal aberration)DNA gene mutation
DNA
(chromosomal aberration): deletion(duplication)(inversion) (translocation) 4
deletion
Cri du chat is a rare syndrome (1 in 50,000 live births) caused by a deletion on the short arm of chromosome 5. The name of this syndrome is French for "cry of the cat," referring to the distinctive cry of children with this disorder. The cry is caused by abnormal larynx development, which becomes normal within a few weeks of birth. Infants with cri du chat have low birth weight and may have respiratory problems. Some people with this disorder have a shortened lifespan, but most have a normal life expectancy.Where does the abnormal chromosome 5 come from? In 80 percent of the cases, the chromosome carrying the deletion comes from the father's sperm.