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ID 114631
タイトル別表記
Genetics and Genomics of Congenital diseases
著者
キーワード
congenital diseases
inheritance
genetic counseling
IRUD
chromosome
資料タイプ
学術雑誌論文
抄録
Virtually any disease is the result of the combined action of genes and environment, but the relative role of the genetic component may be large or small. Among disorders caused wholly or partly by genetic factors, three main types are recognized : chromosome disorder, single-gene defect, multifactorial disease with complex inheritance.
In chromosome disorders, the defect is due to an excess or deficiency of genes located on entire chromosomes or chromosome segments. Single-gene defects are caused by pathogenic mutations in individual genes. The mutation may be present on both chromosomes of a pair or on only one chromosome of a pair. Single-gene defects often cause diseases that follow one of the classic inheritance patterns in families, autosomal recessive, autosomal dominant, or X-linked. Most such defects are rare, but single-gene disorders as a group are responsible for a significant proportion of disease and death. Multifactorial disease with complex inheritance describes the majority of diseases in which there is a genetic contribution, as evidenced by increased risk for disease in identical twins or close relatives of affected individuals, and yet the family history does not fit the inheritance patterns seen typically in single-gene defects. There appears to be no single error in the genetic information in many of these condition.
Genetic counselors define and address the complex psychosocial issues associated with a genetic disorder in a family and provide psychologically oriented counseling to help individuals adapt and adjust to impact and implications of the disorder in the family. For this reason, genetic counseling may be most effectively accomplish through periodic contact with the family. In this article, I describe how genetics and genomics are applied to medical today.
掲載誌名
四国医学雑誌
ISSN
00373699
cat書誌ID
AN00102041
出版者
徳島医学会
75
5-6
開始ページ
143
終了ページ
148
並び順
143
発行日
2019-12-25
フルテキストファイル
言語
jpn
著者版フラグ
出版社版
部局
病院