By K., Ed. Kitamura
How can genetics be valuable to basic otorhinolaryngologists and their sufferers? This booklet summarizes the newest info on genetic illnesses, together with deafness and head-and-neck melanoma, that's suitable to medical perform, quite with regards to exact genetic counseling. the 1st a part of the quantity provides a uncomplicated and basic assessment of genetics. updated details on deafness genes is given and the mouse version for listening to impairment is punctiliously defined. the applying of molecular research of head-and-neck carcinoma has been one of many primary breakthroughs in knowing the cellphone biology of the carcinoma. chapters are dedicated to the dialogue of tumor suppressor genes and oncogenes. This booklet is very instructed when you consider that genetics, really molecular genetics, continues to be an surprising topic to otorhinolaryngologists. but there's a consistent must be alert to the opportunity of diagnosing hereditary problems.
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Additional info for Genetics In Otorhinolaryngology (Advances in Otorhinolaryngology, Vol. 56)
Large-scale sequencing of this newly defined gene interval resulted in the identification of a gene  highly homologous to the drosophila developmental gene eyes absent (eya) . This gene was named EYA1 for eyes absent-like1 and belongs to a newly identified gene family comprising at least three other members in vertebrates, EYA2, EYA3 and EYA4 [13, 15]. The C-terminal end of their predicted amino acid sequences is highly conserved between drosophila and man and was named eyaHR for eyes absent homologous region .
The clinical importance of the condition was highlighted by the fact that three of the four children affected died during an attack. No signs of heart disease could be detected by physical or X-ray examination and the only finding was a prolonged QT interval on the ECG, thought to reflect abnormal cardiac repolarization following the action potential, leading to cardiac arrhythmia. In 1964 Fraser, Froggatt and James published a further nine cases from six sibships following an extensive survey of 1,500 deaf-mute children in England, Wales, Scotland and Ireland .
Contrib Nephrol. Basel, Karger, 1994, vol 107, pp 163–167. Hudson BG, Reeders ST, Tryggvasson K: Type IV collagen: Structure, gene organization, and role in human disease. J Biol Chem 1993;268:26033–26036. Kashtan CE, Michael AF: Alport syndrome: From the bedside to genome to bedside. Am J Kidney Dis 1993;22:627–640. Lemmnik HH, Schro¨der CH, Monnens LAH, Smeets HJM: The clinical spectrum of type IV collagen mutations. Hum Mutat 1997;9:477–499. Netzer K-O, Gross O, Jung C, Kirsten R, Seibold S, Leionen A, Weber M: Alport syndrome: Clinical and genetic correlation in a type-IV collagen disease; in Sessa A, Conte F, Meroni M, Battini G (eds): Hereditary Kidney Diseases.
Genetics In Otorhinolaryngology (Advances in Otorhinolaryngology, Vol. 56) by K., Ed. Kitamura