DEFINITION: Dna analysis can be used for the identification of carriers of hereditary disorders. For prenatal diagnosis of serious genetic conditions yearly diagnosis before the onset of symptoms is done MOLECULAR DIAGNOSIS OF GENETIC DISEASE CYSTIC FIBROSIS: Cystic fibrosis is a genetic disease that affect mostly lungs and also the pancreas. Screening test: It is a complex process Large number of genetic alterations have to be done. For eg : It is the one of the most common lethal autosomal recessive disorder in Europe. It is caused by mutations to cystic fibrosis transmembrane conductance regulator(CFTR) gene . Screening individuals who may be at risk for cystic fibrosis for 500 different mutations is a daunting task. Diagnosis test that screen for a large number of mutations of a single gene in one assay being developed. SICKLE CELL ANEMIA: It is a disorder where red blood cells become rigid and sticky and are shaped like “sickle”. This irregularly shaped cells stucks in small blood vessels which can slow and block the blood flow and oxygen to all the parts of the body. There’s no cure for sickle cell anemia. Screening for sickle cell anemia: SCA is a genetic disease that is the result of a single nucleotide change in the codon for the sixth aminoacid of the β- chain of the hemoglobin molecule. The anemia is caused by the inability of the mutated hemoglobin to carry sufficient oxygen. Target – probe hybridasation is done.

1. MOLECULAR DIAGNOSIS
OF GENETIC DISEASE

2.  Dna analysis can be used for the
identification of carriers of hereditary
disorders.
 For prenatal diagnosis of serious genetic
conditions yearly diagnosis before the onset
of symptoms is done MOLECULAR
DIAGNOSIS OF GENETIC DISEASE

3.  Cystic fibrosis is a genetic disease that affect
mostly lungs and also the pancreas.
 Screening test:
 It is a complex process
 Large number of genetic alterations have to
be done.
 For eg : It is the one of the most common
lethal autosomal recessive disorder in
Europe.

4.  It is caused by mutations to cystic fibrosis
transmembrane conductance regulator(CFTR)
gene .
 Screening individuals who may be at risk for
cystic fibrosis for 500 different mutations is a
daunting task.
 Diagnosis test that screen for a large number
of mutations of a single gene in one assay
being developed.

6.  It is a disorder where red blood cells become
rigid and sticky and are shaped like “sickle”.
 This irregularly shaped cells stucks in small
blood vessels which can slow and block the
blood flow and oxygen to all the parts of the
body.
 There’s no cure for sickle cell anemia.

7.  Screening for sickle cell anemia:
 SCA is a genetic disease that is the result of a
single nucleotide change in the codon for the
sixth aminoacid of the β- chain of the
hemoglobin molecule.
 The anemia is caused by the inability of the
mutated hemoglobin to carry sufficient
oxygen.
 Target – probe hybridasation is done.