Bilqees Begum Shaikh, Associate Professor, Department of Physiology, University of Sindh, presenting her final Ph D thesis at a seminar on 'Hereditary Disorders in Pakistani Families Kindred with Special Reference to Sindh', held at University campus on Wednesday said that hereditary disorder "is an integral part" of human genetic defects caused by mutation in the germ cell.
She said that the genetic defects tend to recur over generations in families following a particular mode of inheritance, ie autosomal dominated, autosomal recessive or X-linked. She said that a time-honoured method for detection of genetic linkage is the search for suitable families showing genetic defects with pedigrees comprising several generations.
She said that the hereditary disorders examined through research were such as: albinism, syndactyly, muscular dystrophy, dwarfism, schizophrenia, down syndrome, deafness and neurofibromatosis.
The genetic disorder 'albinism' is due to the absence of pigments in the skin, hair and eyes. It is an autosomal recessive disorder. It is due to tyrosine abnormality in the production of melanin. The pedigree shows seven affected individuals (3 males and 4 females).
Syndactyly in it fusion of fingers or toes gives web appearance. The pedigree shows eight members affected (6 females and 2 males).
MUSCULAR DYSTROPHY: genetic abnormality of muscle associated with dysfunction and deterioration. It is X-linked recessive genetic disorder. In 4 generations, 6 persons are affected.
DWARFISM: Persons below average height and size are called dwarf. In 5 generations, 5 persons are affected, and pedigree shows consanguineous marriages.
SCHIZOPHRENIA: A type of psychosis, characterised by a disorder in thinking processes, such as hallucination. The pedigree comprising 6 generations (5 males were schizophrenic, one from each generation).
DOWN SYNDROME: It's a syndrome of mental retardation, caused by representation of chromosome 21 three times. Here pedigree comprises 4 generations. Six persons are with genetic defect( 4 males and 2 females). Neurofibromatosis: is an autosomal dominant genetic disorder. Pedigree comprises 4 generations: two males are affected.
The scholar pointed out that the study of all genetic disorders was equally important and they are under research process with different parameters, in other institutions in the country.
She said that no research work had been under taken on neurofibromatosis in Pakistan as such. but in the present study this disorder neurofibromatosis has been more thoroughly investigated. Neurofibromatosis type NFI is a Neurocutaneous disorder. Few NFI subjects were mild, but some affected individuals had significant medical problems.
In one family nine members in three generations were affected, while in another family, all members in three generations were affected, excluding two females. The affected members were also suffering from psychological and mental retardation to some extent. Neurofibromatosis type I (NFI) is an autosomal dominated disorder affecting one in 4000 people. The NFI gene is located on chromosome 17q.
She said that this study reveals a variety of NF and its different types and added that a major phenotype feature of the disease is the widespread occurrence of benign dermal and plexiform neurofibromas. Neurofibromatosis is diagnosed on its clinical features such as neurofibroma or dermal tumours, lisch nodules , Café-au-laity spots, skin frecking or if only plexiform is present. It is diagnosed as NFI.
Highlighting importance of the research, she said that hereditary disorders are of great significance and deserve special attention due to their impact on the lives of the affected persons, their families and the society at large.
She claimed that under her research work she examined 96 persons from the various urban as well as rural parts of the country.
Sindh University Vice Chancellor Mazharul Haq Siddiqui lauded the efforts of the research scholar and said that the work conducted by her must be beneficial to the community for the resolution of their problems.
Members of the faculty of Natural Sciences attended the seminar. Dr M Y Khawar, Dean of the faculty, said that the University was sending the thesis to two scholars in foreign Universities and 3 local scholars for assessing the research work. The scholar conducted her research under supervision of Professor Dr K D Pitafi of the University of Sindh, while Professor Dr Mahmood Ahmed of Quaid-e-Azam University Islamabad and Professor Dr Manzoor Ahmed of Liaquat University of Medical and Health Sciences Jamshoro were co-supervisors of the research scholar.
Comments
Comments are closed.