Mendelisme dalam Oftalmogenetika
Mendelian disorders are genetic diseases caused by a mutant gene or a pair of mutant genes, either dominant or recessive, located in the autosomal or sex-chromosomes. The exact location of several genes in the chromosomes has been established by various rnethods. According to The Edinburgh Conferenc...
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[Yogyakarta] : Universitas Gadjah Mada
1988
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| author | Perpustakaan UGM, i-lib |
| author_facet | Perpustakaan UGM, i-lib |
| author_sort | Perpustakaan UGM, i-lib |
| collection | UGM |
| description | Mendelian disorders are genetic diseases caused by a mutant gene or a pair of mutant genes, either dominant or recessive, located in the autosomal or sex-chromosomes.
The exact location of several genes in the chromosomes has been established by various rnethods. According to The Edinburgh Conference 1979 the location of 260 genes in the chromosomes has been identified.
Based on the nature of the mutant genes (dominant or recessive) and the location of the mutant genes (in the autosomes or sex-chromosomes), Mendelian disorders may be transmitted by:
a.autosomal dominant,
b.autosomal recessive,
c.X-linked dominant,
d.X-linked recessive, and
e. Y-linked mode of inheritance.
Retinoblastoma, macular corneal dystrophies and color blindness are the examples of Mendelian disorders in ophthalmogenetics transmitted by autosomal dominant, autosomal recessive and X-linked recessive mode of inheritance respectively. In addition, a list of other Mendelian disorders affecting the eye have been presented.
Key Words: Mendelian disorders - mutant genes - gene location - sex-linked mutant ophthalmogenetics |
| first_indexed | 2024-03-13T18:47:46Z |
| format | Article |
| id | oai:generic.eprints.org:22508 |
| institution | Universiti Gadjah Mada |
| last_indexed | 2024-03-13T18:47:46Z |
| publishDate | 1988 |
| publisher | [Yogyakarta] : Universitas Gadjah Mada |
| record_format | dspace |
| spelling | oai:generic.eprints.org:225082014-06-18T00:42:30Z https://repository.ugm.ac.id/22508/ Mendelisme dalam Oftalmogenetika Perpustakaan UGM, i-lib Jurnal i-lib UGM Mendelian disorders are genetic diseases caused by a mutant gene or a pair of mutant genes, either dominant or recessive, located in the autosomal or sex-chromosomes. The exact location of several genes in the chromosomes has been established by various rnethods. According to The Edinburgh Conference 1979 the location of 260 genes in the chromosomes has been identified. Based on the nature of the mutant genes (dominant or recessive) and the location of the mutant genes (in the autosomes or sex-chromosomes), Mendelian disorders may be transmitted by: a.autosomal dominant, b.autosomal recessive, c.X-linked dominant, d.X-linked recessive, and e. Y-linked mode of inheritance. Retinoblastoma, macular corneal dystrophies and color blindness are the examples of Mendelian disorders in ophthalmogenetics transmitted by autosomal dominant, autosomal recessive and X-linked recessive mode of inheritance respectively. In addition, a list of other Mendelian disorders affecting the eye have been presented. Key Words: Mendelian disorders - mutant genes - gene location - sex-linked mutant ophthalmogenetics [Yogyakarta] : Universitas Gadjah Mada 1988 Article NonPeerReviewed Perpustakaan UGM, i-lib (1988) Mendelisme dalam Oftalmogenetika. Jurnal i-lib UGM. http://i-lib.ugm.ac.id/jurnal/download.php?dataId=5421 |
| spellingShingle | Jurnal i-lib UGM Perpustakaan UGM, i-lib Mendelisme dalam Oftalmogenetika |
| title | Mendelisme dalam Oftalmogenetika |
| title_full | Mendelisme dalam Oftalmogenetika |
| title_fullStr | Mendelisme dalam Oftalmogenetika |
| title_full_unstemmed | Mendelisme dalam Oftalmogenetika |
| title_short | Mendelisme dalam Oftalmogenetika |
| title_sort | mendelisme dalam oftalmogenetika |
| topic | Jurnal i-lib UGM |
| work_keys_str_mv | AT perpustakaanugmilib mendelismedalamoftalmogenetika |