Phenotypic Variation in Pigmentation of Persons with Albinism in Rejang Lebong, Bengkulu
- DOI
- 10.2991/absr.k.210621.066How to use a DOI?
- Keywords
- albinism, Bengkulu, pigmentation
- Abstract
Albinism is a congenital disorder, a group of genetic disorders in which there is a partial or total lack of the pigment melanin in the eyes, skin, and hair. It is caused by one or more enzymes committed to the biosynthesis of melanin, and one of them are a deficiency of the tyrosinase. It is a genetic disorder transmitted by an autosomal recessive gene. The research was conducted from August-November 2019. It was aimed to determine the variety of pigmentation on the skin, hair, and eyes of the human population with albinism disorder in Rejang Lebong, Bengkulu Province, by using the descriptive research method based on qualitative data. Data were collected by interviews with the family of persons with albinism disorder. The results showed that the color of skin, hair, and eyes are varied between individuals, although they are siblings. The skin color is varied from white to reddish or pale brown. Hair color ranges from fawn, brown, reddish-yellow to reddish-brown, while the color of the eyes is more varied, from yellowish-brown, dark-brown, light-grey, greenish-blue, bluish-black. About 57% of the participants had strabismus problems, and 43% had iris transillumination,1 00% had nystagmus. They all come from the family that had phenotypically normal parents. More than 50% of the family members did not have the albinism phenotype until the previous 2-3 generations.
- Copyright
- © 2021, the Authors. Published by Atlantis Press.
- Open Access
- This is an open access article distributed under the CC BY-NC license (http://creativecommons.org/licenses/by-nc/4.0/).
Cite this article
TY - CONF AU - Santi Nurul Kamilah AU - Choirul Muslim AU - Yuniarti Dwi Astuti AU - Malini DHP Pasaribu PY - 2021 DA - 2021/06/23 TI - Phenotypic Variation in Pigmentation of Persons with Albinism in Rejang Lebong, Bengkulu BT - Proceedings of the 3rd KOBI Congress, International and National Conferences (KOBICINC 2020) PB - Atlantis Press SP - 391 EP - 394 SN - 2468-5747 UR - https://doi.org/10.2991/absr.k.210621.066 DO - 10.2991/absr.k.210621.066 ID - Kamilah2021 ER -