Essentials of Clinical Genetics in Nursing Practice by Felissa R. Lashley RN PhD ACRN FAAN FACMG

By Felissa R. Lashley RN PhD ACRN FAAN FACMG

Very good textual content. Thorough, yet effortless to learn. offers the knowledge in an informative, fascinating demeanour.

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Both of them have had appointments with the same woman’s health nurse practitioner for preconception counseling. Ellen, who is of Ashkenazi Jewish descent, has been asked to consider genetic testing to determine whether she might be a carrier for Tay-Sachs disease as well as certain other conditions but not beta-thalassemia. Tay-Sachs disease is an autosomal recessive disorder resulting in a neurodegenerative disorder. Mary, who is of Greek descent, has been asked to consider genetic testing to determine whether she might be a carrier for beta-thalassemia but not Tay-Sachs disease.

They have a considerably selective advantage over individuals with the other Fy alleles in malarial areas. Other associations between blood groups and diseases are known. THE HLA SYSTEM Characteristics and Inheritance The HLA ( H = human, L = leukocyte, A = antigen) system is the major histocompatibility complex (MHC) in humans. Major normal functions of the HLA system include acting as a marker of self and the presentation of antigen particularly to T-helper cells. There are three MHC regions located close together on the short arm of chromosome 6 (6p): the class I and II HLA genes and the class III genes that code for non-HLA products that are often involved with immune function.

HLA-B27 is found in 75% of persons with Reiters disease, and up to 90% of persons who develop arthritis after enteric infection due to Shigella, Salmonella, and certain Yersinia species. 34 Essentials of Clinical Genetics in Nursing Practice In narcolepsy, HLA DQB1*0602 is present in 90–100% of persons with narcolepsy and cataplexy (present as part of the classic group of symptoms in narcolepsy in the majority of patients; it is a brief sudden episode of weakness in voluntary muscles that may be triggered by emotion such as laughing or anger).

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