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Linkage analysis of genes involved in human hereditary hair loss disorder

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Research Paper 01/12/2018
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Linkage analysis of genes involved in human hereditary hair loss disorder

Hafeezul Haq, Amir Atlas, Bilal Abbas, Arshad Abbas, Nargis Jamila, Muhammad Rehman, Hameed Ur Rehman, Ali Nawaz, Hazrat Usman
J. Bio. Env. Sci.13( 6), 32-39, December 2018.
Certificate: JBES 2018 [Generate Certificate]
Key: HereditaryHypotrichosisLinkageLPAR6 gene

Abstract

Hair can be observed at different levels, its structure and function can be modified by its constituent molecules, especially proteins, but sometimes hair follicles can also be genetically altered. Damage to the hair follicle life cycle affects the structure and morphology of the hair. Hypotrichosis is a heterogeneous group of hereditary offenses that pass from one generation to the next in both dominant and recessive forms. Hypotrichosis manifests itself in both symptomatic and non-syndromic forms, exhibiting a broad phenotype. The phenotype ranges from sparse to completely scalp free. Manes, pubic hairs, eyebrows and eyelashes are also affected to varying degrees in different forms of hair. These hairs are present in different parts of the body’s roots, forming organized, multi-layered, regenerative and epidermal appendages called hair follicles. . Any mutation in a gene known to be involved in hair follicle development and hair cycle is a causative agent of hereditary hypotrichosis. So far, 7 sites of non-syndromic autosomal dominant hypotrichosis and 8 sites of non-syndromic autosomal recessive hypotrichosis have been localized on different autosomes. Syndromic forms of hereditary hypotrichosis are known to have varying degrees of abnormality.In this study, a family from the region Karak was described as having a non-syndromic autosomal recessive form. A homozygous mapping study using highly polymorphic microsatellite markers established a linkage between the family and the LPAR6 gene located on chromosomes 13q14.11-21.32.DNA sequence analysis using the LPAR6 gene revealed that G replaced A, at nucleotide 436 (c.436G>A, p.Gly146Arg) was derived from (A) control individuals.

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