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![Physical and genetic mapping around a candidate locus for orofacial clefting için kapak resmi Physical and genetic mapping around a candidate locus for orofacial clefting için kapak resmi](/client/assets/d79c3e4af2b6d196/ctx/images/no_image.png)
Physical and genetic mapping around a candidate locus for orofacial clefting
Başlık:
Physical and genetic mapping around a candidate locus for orofacial clefting
Yazar:
Heather, Lisa Jane, author.
ISBN:
9780438043923
Yazar Ek Girişi:
Fiziksel Tanımlama:
1 electronic resource (281 pages)
Genel Not:
Source: Dissertation Abstracts International, Volume: 76-08C.
Özet:
Congenital craniofacial malformations are among the most prevalent birth defects in man. With 1 in 500-1000 infants being born with cleft lip and / or cleft palate. Clefting is genetically complex with many modes of inheritance being predicted. Orofacial clefting can occur as an isolated defect or as one manifestation of a number of syndromes. The physical and psychological problems associated with facial malformations make this a pertinent area for genetic study. Isolation of a gene(s) responsible for orofacial clefting would allow prenatal diagnosis of the condition, preparing parents for the birth of a malformed child. With the eventual aim being corrective in utero surgery which would considerably reduce scarring and wound contracture which are complications of current surgical methods. The creation of a transgenic mouse with an autosomal dominantly transmitted anomaly apparently analogous to cleft lip in man was therefore of great interest. The interrupted sequence was isolated and the human homologue localized to chromosome 6p24-25. This locus had previously been suggested as a candidate for some forms of autosomal dominant cleft lip with or without cleft palate (ADCLP). This thesis describes the study of the interrupted mouse sequence as a candidate gene for ADCLP in man. Conservation of the DNA sequence was demonstrated by hybridization with a zoo blot and considerable sequence homology was detected between the interrupted mouse sequence and its human and rat counterparts. Isolation of a YAC containing a larger DNA fragment including the candidate gene facilitated physical and genetic mapping around the locus. This enabled the localization of the candidate human clone at an HTF island within the YAC insert, indicative of a potential gene at this locus. Obtaining the YAC for the region also allowed the identification of a polymorphic (CA)n repeat which facilitated a small linkage study with ADCLP families to be carried out. A family with a translocation t(6;9)(p23;q22.3) cosegregating with ADCLP and some features of ectodermal dysplasia was identified. It was demonstrated by FISH that the candidate region was not disrupted by the translocation break, but was found intact on the derived chromosome 9. A somatic cell hybrid containing the derived chromosome 9 was constructed which will allow identification of putative gene sequences around the translocation breakpoints.
Notlar:
School code: 1543
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Yer Numarası | Demirbaş Numarası | Shelf Location | Lokasyon / Statüsü / İade Tarihi |
---|---|---|---|
XX(684329.1) | 684329-1001 | Proquest E-Tez Koleksiyonu | Arıyor... |
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