Neurofibromatosis shows which of the following mode of inheritance -
Ans. is 'a' i.e., ADo Neurofibromatosis shoves autosomal dominant inheritance patterno Sineie gene disorders (Mendelian disorders> typically follow one of the three patterns of inharitance -Autosomal dominanceAutosomal recessiveX-linkedAutosomal dominant disorderso Normally a gene pair has two alleles.o When one allele becomes abnormal due to mutation it is called heterozygous state,o When both the alleles become abnormal due to mutation it is called homozygous state.o Autosomal dominant disorders are manifested in heterozygous state\ i.e. only if one allel is abnormal the disease will be manifested.Autosomal dominant disordersNervousUrinaryGITHematologicalSkeletalMetabolico Huntington diseaseo Neuro fibromatosiso Myotonic dvstrohyo Tuberous sclerosiso Retinoblastomao Polycystic kidneyo Familial polyposis colio Gardner's syndromeo Turcot's syndromeo Lynch syndromeo Peutz Jagher's syndromeo Juvenile polyposiso Heriditary spherocytosiso Von-Witlibrand diso Marfan syndromeo EDS (some variant)o Osteogenesis imperfecto Achondroplasiao Familia hypercho-lesterolemiao Acute intermittent porphyriaNote - Ehlers - Danlos syndrome (EDS) has all three mendelian pattern of inheritance.
AD
AR
X linked dominant
X linked recessive
Mendelian Disorders: Single-Gene Defects