ISBN-13: 9783659476884 / Angielski / Miękka / 2013 / 224 str.
The book describes the molecular genetics research on families with a variety of inherited eye disorders from Pakistan. Inbreeding and consanguineous marriages are very commonly practiced in Pakistan, leading to the segregation of a wide variety of genetic disorders in large mutigenerational families, including disorders of the eyes. For this reason, Pakistan is considered as a goldmine for the genetic researchers. The aim of the study presented in this book was to map the disease phenotype and identify genes responsible for inherited ocular disorders in Pakistani families. The ultimate purpose was to reduce the burden of these incurable disorders from the society by providing genetic counseling and designing possible therapeutic interventions. The material provided in this book is therefore extremely valuable for the clinicians, researchers and students of human molecular geneticists, as it covers basic genetic concepts to research strategies for the identification of disease gene(s).
The book describes the molecular genetics research on families with a variety of inherited eye disorders from Pakistan. Inbreeding and consanguineous marriages are very commonly practiced in Pakistan, leading to the segregation of a wide variety of genetic disorders in large mutigenerational families, including disorders of the eyes. For this reason, Pakistan is considered as a goldmine for the genetic researchers. The aim of the study presented in this book was to map the disease phenotype and identify genes responsible for inherited ocular disorders in Pakistani families. The ultimate purpose was to reduce the burden of these incurable disorders from the society by providing genetic counseling and designing possible therapeutic interventions. The material provided in this book is therefore extremely valuable for the clinicians, researchers and students of human molecular geneticists, as it covers basic genetic concepts to research strategies for the identification of disease gene(s).