By Linda R. Adkison
Ffectively merge simple technology and medical talents with Elsevier's built-in overview Genetics, via Linda R. Adkison, PhD. This concise, high-yield identify within the well known built-in evaluate sequence makes a speciality of the center wisdom in genetics whereas linking that info to comparable options from different simple technology disciplines. Case-based questions on the finish of every bankruptcy assist you to gauge your mastery of the fabric, and a color-coded structure lets you fast locate the explicit assistance you wish. This concise and easy reference offers the most important information for the early years of scientific education and USMLE preparation.
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Spend extra time reviewing and no more time looking out due to an exceptionally centred, "high-yield" presentation.
- Gauge your mastery of the cloth and construct self assurance with either case-based andUSMLE-style questions that supply powerful bankruptcy overview and quickly perform on your exams.
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Grasp and hold important thoughts extra simply due to a color-coded layout, succinct textual content, key suggestion packing containers, tables, and dynamic illustrations that facilitate studying in a hugely visible approach.
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Extra info for Elsevier's Integrated Review Genetics (2nd Edition)
However, this situation is different because for males all X chromosome genes are expressed from the same single chromosome. Females have two X chromosomes, but the scenario is different from that of autosomes because of lyonization. Variation in alleles results from mutations, and the effects of any mutation can influence the character and function of the protein formed. Many times a mutation will create a protein with a recessive nature, but this is not always the case. Several mechanisms through which an allele can affect a function are shown in Table 3-1.
The incidence of Down syndrome rises markedly with maternal age—from about 1 in 2000 live births at maternal age 20 years to 1 in 100 at age 40 (Fig. 2-8). Among infants born to women over age 45, Down syndrome is expected to affect 1 in 40 infants. It was immediately surmised that the extra chromosome in the affected infant is acquired during the production of the egg by the mother. As noted above, all eggs a woman produces during her reproductive life are present from the moment of birth. At birth, the ovaries contain 1 to 2 million germ cells; by puberty this number has declined to 300,000 to 400,000 germ cells through normal follicular atresia.
Recombination occurs in meiosis I prophase; meiosis II is similar to mitosis. ■ Techniques for visualizing chromosomes generally rely on metaphase chromosomes. ■ Chromosome abnormalities are classified as structural or numerical. ■ Structural abnormalities are caused by translocations, deletions, duplications, and insertions. ■ Numerical abnormalities are caused by nondisjunction and occasionally anaphase lag. ■ The larger the chromosome involved in an aneuploid presentation, the greater the phenotypic effect and the poorer the clinical outcome.