TAILIEUCHUNG - Ebook ABC of clinical genetics (3/E): Part 2

(BQ) Part 2 book “ABC of clinical genetics” has contents: Single gene disorders, genetics of common disorders, prenatal diagnosis, DNA structure and gene expression, gene mapping and molecular pathology, techniques of DNA analysis, molecular analysis of mendelian disorders, and other contents. | 10 Single gene disorders There are thousands of genetic traits and disorders described, some of which are exceedingly rare. All of the identified mendelian traits in man have been catalogued by McKusick and are listed on the Omim (online mendelian inheritance in man) database described in chapter 16. In this chapter the clinical and genetic aspects of a few examples of some of the more common disorders are briefly outlined and examples of genetic disorders affecting various organ systems are listed. Molecular analysis of some of these conditions is described in chapter 18. Central nervous system disorders Huntington disease Huntington disease is an autosomal dominant disease characterised by progressive choreiform movements, rigidity, and dementia from selective, localised neuronal cell death associated with atrophy of the caudate nucleus demonstrated by CNS imaging. The frequency of clinical disease is about 6 per 100 000 with a frequency of heterozygotes of about 1 per 10 000. Development of frank chorea may be preceded by a prodromal period in which there are mild psychiatric and behavioural symptoms. The age of onset is often between 30 and 40 years, but can vary from the first to the seventh decade. The disorder is progressive, with death occurring about 15 years after onset of symptoms. Surprisingly, affected homozygotes are not more severely affected than heterozygotes and new mutations are exceedingly rare. Clinical treatment trials commenced in 2000 to assess the effect of transplanting human fetal striatal tissue into the brain of patients affected by Huntington disease as a potential treatment for neurodegenerative disease. The gene (designated IT15) for Huntington disease was mapped to the short arm of chromosome 4 in 1983, but not finally cloned until 1993. The mutation underlying Huntington disease is an expansion of a CAG trinucleotide repeat sequence (see chapter 7). Normal alleles contain 9–35 copies of the repeat, whereas pathological alleles .

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• ABC of clinical genetics
• Clinical genetics
• Single gene disorders
• Prenatal diagnosis
• Gene expression
• Gene mapping
• Clinical genetic services
• Genetic assessment
• Chromosomal analysis
• Common chromosomal disorders
• Inheritance mechanisms
• ABC of colorectal cancer
• Colorectal cancer
• The surgeon matter
• Adjuvant therapy
• The role of primary care
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• Preventing Morbidity
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