Академический Документы
Профессиональный Документы
Культура Документы
A long, continuous strand of DNA, plus several types of associated proteins, and RNA.
Cytogenetics: the study of chromosomes, their structure, and their inheritance. The importance of chromosomes in medicine:
Clinical diagnosis
Eg, Turner syndrome
Gene mapping
Eg, cystic fibrosis
Cancer cytogenetics
Eg, retinoblastoma
Prenatal diagnosis
Eg, Down syndrome
SUBMETACENTRIC
p q
17
21
Size: chromosome 1 is largest, chromosome 22 smallest Centromere position: metacentric, submetacentric, acrocentric all chromosomes have a shorter arm, p, and a longer arm, q.
G-banding:
pattern subdivides each chromosome arm into regions.
1. 2. 3. 4. 5. 6. 7.
Cells (from blood, amniotic fluid, or chorionic villus) are grown in culture.
Mitogens may be required: lymphocytes require phytohemagglutinin
Colcemid stops cells at metaphase. Hypotonic shock ruptures RBCs, swells lymphocytes. Cells are fixed in MeOH/HOAc. Chromosomes are spread on a slide. Trypsinization and staining with Giemsa reveals G-bands. The chromosome spread is photographed and arranged by type.
Chromosome painting
Mixture of fluorescently-labeled probes for single-copy genes that map along the entire length allow entire chromosomes to be visualized
Anueploidies, translocations
A, Partial metaphase showing a microdeletion of the elastin gene (ELN) (arrow) associated with Williams syndrome. B, Interphase cell shows a microduplication of the peripheral myelin protein 22 gene ( PMP22) (arrows) associated with Charcot-Marie-Tooth syndrome.
Normal karyotype
Skin cells
Fibroblast cultures grow without mitogens
Cultures are long-lived, can be immortalized
Tumor cells
Obtained from biopsy
Amniocytes
From amniocentesis
Amniotic fluid is available after ~16 weeks Amniotic fluid is waste containing cells shed from skin, respiratory tract, urinary tract. Amniotic fluid can be biochemically tested for metabolic disorders
Placental cells
Obtained by chorionic villus sampling
Placental cells are dividing, and karyotypes can be obtained within hours
Known chromosomal abnormality of first-degree relative Previous child with chromosomal aberration
Recurrence risk ~1-2%
Prenatal testing:
Amniocentesis: Chorionic villus sampling:
Chorionic villi Developing placenta Ultrasound to monitor procedure
Bladder
Catheter