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Note: double
click on any word to find its meaning
3. Congenital Fibrosis of Extra Ocular Muscles 1 4. Glaucoma
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Research Projects already explored or currently working:
Fanconi anemia is a
rare multi-genic, autosomal and
X-linked recessive disorder characterized by hematological
abnormalities, developmental defects and increased cancer
susceptibility. FA is a multi-system disorder and the physical
abnormalities include short stature; abnormal skin pigmentation;
malformations of the thumbs, forearms, skeletal system, eyes,
kidneys and urinary tract, ear, heart, gastrointestinal system,
oral cavity, and central nervous system; hearing loss;
hypogonadism; and developmental delay. Children with FA
frequently develop pancytopenia during the first decade of life.
FA patients are predisposed to many types of cancers and acute
myeloblastic leukemia (AML) is the most common cancer. Older
patients can also develop squamous cell carcinoma of the head and
neck. FA has an incidence of less than 1 per 100,000 live births.
The disease has a general, worldwide prevalence of 1-5 per
million and is found in all races and ethnic groups.
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of this work is to Identify and characterize genes involved in the signaling of DNA repair pathway using FA as model. |
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Tuberous Sclerosis Complex: (Ph.D. Thesis Work)
My thesis work (August 2000 to August 2004) includes the molecular genetic analysis of a genetic disorder known as tuberous sclerosis complex.
Tuberous sclerosis complex is an autosomal dominant disorder that affects several organs in the human body including the brain, heart, kidneys, eyes, skin, and lungs. TSC is characterized by hamartomas, which rarely progress to malignancy in affected organs. The estimated prevalence of TSC is 1 in 6,000 to10,000 live births in western populations. The actual incidence of TSC is not known in the Indian population. However, it seems to be as common in India as in western populations. It is estimated that approximately 68% of TSC cases are due to new mutations.
TSC is due to mutations in two known loci: TSC1 on chromosome 9q34 and TSC2 on chromosome 16p13.3. The genes for both the loci have been isolated and named TSC1 and TSC2. The TSC1 gene contains 21 coding and two leader exons and encodes an 8.6 kb mRNA. It spans 45 kb of genomic DNA and codes for hamartin, a 1164 amino acid protein of moleular mass 130 kDa. The TSC2 encodes a 200 kDa protein, tuberin, and spans 43 kb of genomic DNA. The TSC2 gene consists of 41 coding exons.
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The aim of this work was to 1. Isolate and characterize the 5’ends of the gene, including Promoter of TSC1. help in designing a suitable strategy to screen for mutations in the patients in this region who do not show any mutations in the coding region. Moreover it will help to understand the regulation of TSC1 gene) 2.
Ascertain 20-25 TSC cases. 3.
Identify the range and types of mutation in TSC cases. (It will help locate important domains and also to locate mutational hotspots, in both the genes in patients from Indian population which will be ultimately helpful for molecular diagnosis of TSC) 4.
Separate chromosome 9 and 16 linked familial cases using
haplotype analysis. (To find how many of the familial cases are linked to TSC1 and TSC2 genes) 5. Carry out genotype-phenotype correlation. (To find how different is the severity of the disease when mutations are found in TSC1 gene or TSC2 gene) |
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Related Publications: 1. Ali, A. M. Thesis (full text: HTML/PDF) 2. Ali, A. M. et al. Gene 320:145-154 (full text: HTML/PDF) 3. Ali, A. M. et al. Acta Neurol Scand 111(1):54-63 (full text: HTML/PDF) |
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3.) Congenital Fibrosis of Extra Ocular Muscles 1 (CFEOM1):
Congenital fibrosis of extra ocular muscles 1 is a syndrome of congenital nonprogressive bilateral ophthalmoplegia and ptosis, an infraducted primary position of each eye with the inability to raise either eye above the midline, and forced duction testing positive for restriction.
The gene, responsible for the disease CFEOM1 at the FEOM1 locus spans ~150 kb of genomic DNA, has an open reading frame of 5022 bp and consists of 38 exons with alternative splicing of exon 12 and exons 29-31. It encodes for a motor protein KIF21A of 1674 amino acids. Several mutation has been reported in the KIF21A gene.
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The aim of this work was to 1. carry out the mutation analysis of the KIF21A gene in a four-generation Indian family affected with and to CFEOM1 2. find out the
molecular basis of the most frequent mutations c.2860C>T |
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Related Publications: 1. Ali, A. M. et al. Ophthal Genet 25(4):247-255 (full text: HTML/PDF) |
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4.) Glaucoma:
Glaucoma represents a group of optic neuropathies with different genetic basis. Glaucoma is a leading cause of blindness in virtually every country. In India, ~1.5 million people are blind due to glaucoma. Glaucoma is characterized by an optic neuropathy involving a loss of neurons within the optic nerve, giving a characteristic deformation known as glaucomatous optic disc cupping. It will have an associated alteration of the visual field and elevation of intraocular pressure.
Mutations in the MYOC gene at the GLC1A locus on chromosome 1q21-q31, CYP1B1 gene at the GLC3A locus on chromosome 2p21, OPTN gene at the GLC1E locus on chromosome 10p14 and WDR36 gene at the GLC1G locus on chromosome 5q22.1 have been found in patients with glaucoma.
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The aim of this work was to 1. identify the genetic cause of glaucoma in a large collection of Indian families affected with primary open angle glaucoma (POAG; juvenile and adult onset) and primary congenital glaucoma (PCG). |
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Genomic imprinting is
defined as an epigenetic modification of a gene or the chromosome on
which it resides that is present in the gamete or zygote and leads to
differential expression of the two parental alleles of the gene in
somatic cells of the offspring. It is a normal form of gene regulation
that causes a bias in the expression of alleles inherited from each
parent. Till date more than 70 imprinted genes have been identified
from both mouse and humans. Imprinted genes show species specific,
tissue specific and developmental stage specific imprinting. |
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The aim of this work was to 1. understand the regulation of SLC22A18 expression and it's imprinting mechanism. |
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Infertility affects approximately 13-18% couples of child bearing age. Male infertility accounts for approximately half of these cases. Male infertility is known to have a genetic basis in many cases. 17% of azoospermic/oligospermic males are karyotypically abnormal. The associated genetic changes includes, aneuplodies, structural aberrations (deletions, translocations, inversions) and gene mutations (CFTR mutations in obstructive azoospermia). Deletions in Azoospermic regions (AZFa, AZFb and AZFc) on Y-chromosome have been shown to be associated with infertility. |
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The aim of this work was to 1. find out the cytogenetic and molecular basis of male infertility. |
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Last Updated 06-08-2005 |
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