Stock Image

Mapping and DNA sequence analysis of Genes underlying Isolated Autosomal Human Hereditary Alopecia in Pakistani families

Khushbakht Khan

Published by GRIN Verlag Gmbh Jan 2015, 2015
ISBN 10: 3656865973 / ISBN 13: 9783656865971
New / Taschenbuch / Quantity Available: 1
From Agrios-Buch (Bergisch Gladbach, Germany)
Available From More Booksellers
View all  copies of this book
Add to basket
List Price:
Price: £ 39.83
Convert Currency
Shipping: £ 14.72
From Germany to U.S.A.
Destination, Rates & Speeds

Save for Later

About the Book

Bibliographic Details


Title: Mapping and DNA sequence analysis of Genes ...

Publisher: GRIN Verlag Gmbh Jan 2015

Publication Date: 2015

Binding: Taschenbuch

Book Condition: Neu

Description:

Neuware - Bachelor Thesis from the year 2014 in the subject Biology - Micro- and Molecular Biology, grade: 1, International Islamic University, language: English, abstract: Alopecia is a broad term including many forms of hereditary hair loss resulting from genetic defects affecting hair growth cycle or hair structure that vary in age of onset, severity and associated ectodermal abnormalities. The inheritance pattern of alopecia can be autosomal dominant, autosomal recessive or X-linked. Various mutations in several genes on different chromosomes are being identified which are involved in pathogenesis of inherited autosomal recessive alopecia. In present research, two families (A&B) with isolated hereditary alopecia, residing in different zones of Pakistan were ascertained. The mode of inheritance inferred as autosomal recessive. One family was subjected to mutation screening while on other, polymorphic microsatellite markers was used for the purpose of homozygosity mapping to explicate the gene defect. Phenotypic analysis of family A shows the characteristic clinical features of hypotrichosis with sparse hair on head and rest of body and with no associated abnormality. Gene linked to this family in previous research was CDH3. So, splice-junction site and sixteen exons of this gene were sequenced but were negative for functonal sequence variant. This clearly shows mutation must be present in regulatory region of this gene. In family B, affected individual s shows clinical features of atrichia with papular lesions (APL) which is rare autosomal recessive disorder, characterized by occurrence of complete hair loss with the development of keratin-filled cysts. Known candidate genes (DSG4, HR, LIPH and LPAR6) were tested for homozygosity mapping via polymorphic microsatellite markers. Genotyping data showed no linkage to any of the candidate loci and therefore, their involvement in causing atrichia with papular lesions in this family is not supported. 88 pp. Englisch. Bookseller Inventory # 9783656865971

About this title:

Synopsis: Bachelor Thesis from the year 2014 in the subject Biology - Micro- and Molecular Biology, grade: 1, International Islamic University, language: English, abstract: Alopecia is a broad term including many forms of hereditary hair loss resulting from genetic defects affecting hair growth cycle or hair structure that vary in age of onset, severity and associated ectodermal abnormalities. The inheritance pattern of alopecia can be autosomal dominant, autosomal recessive or X-linked. Various mutations in several genes on different chromosomes are being identified which are involved in pathogenesis of inherited autosomal recessive alopecia. In present research, two families (A&B) with isolated hereditary alopecia, residing in different zones of Pakistan were ascertained. The mode of inheritance inferred as autosomal recessive. One family was subjected to mutation screening while on other, polymorphic microsatellite markers was used for the purpose of homozygosity mapping to explicate the gene defect. Phenotypic analysis of family A shows the characteristic clinical features of hypotrichosis with sparse hair on head and rest of body and with no associated abnormality. Gene linked to this family in previous research was CDH3. So, splice-junction site and sixteen exons of this gene were sequenced but were negative for functonal sequence variant. This clearly shows mutation must be present in regulatory region of this gene. In family B, affected individual's shows clinical features of atrichia with papular lesions (APL) which is rare autosomal recessive disorder, characterized by occurrence of complete hair loss with the development of keratin-filled cysts. Known candidate genes (DSG4, HR, LIPH and LPAR6) were tested for homozygosity mapping via polymorphic microsatellite markers. Genotyping data showed no linkage to any of the candidate loci and therefore, their involvement in causing atrichia with papular lesions in this family is not supported.

"About this title" may belong to another edition of this title.

Bookseller & Payment Information

Payment Methods

This bookseller accepts the following methods of payment:

  • American Express
  • Bank/Wire Transfer
  • Check
  • Invoice
  • MasterCard
  • PayPal
  • Visa

[Search this Seller's Books]

[List this Seller's Books]

[Ask Bookseller a Question]

Bookseller: Agrios-Buch
Address: Bergisch Gladbach, Germany

AbeBooks Bookseller Since: 11 January 2012
Bookseller Rating: 5-star rating

Terms of Sale:

Allgemeine Geschäftsbedingungen (abebooks.de)

der Firma Agrios Buch- und Medienversand UG e.K. ,Geschäftsführer Ludwig Meier, De-Gasperi-Str. 8, 51469 Bergisch Gladbach nachstehend als Verkäufer bezeichnet.

§ 1 Allgemeines, Begriffsbestimmungen

(1) Der Verkäufer bietet unter dem Nutzernamen Agrios Buch unter der Plattform abebooks.de insbesondere Bücher an. Die folgenden Allgemeinen Geschäftsbedingungen (AGB) gelten für die Geschäftsbeziehung zwischen dem Verkäufer und dem Kunden in ihrer zum Ze...

[More Information]

Shipping Terms:

Der Versand ins Ausland findet IMMER mit DHL statt. Auch nach Österreich verschicken wir nur mit DHL! Daher Standardversand == Luftpost!


Detailed Seller Information