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Mapping genetic loci involved in non...

Moreno, Lina Maria.

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Mapping genetic loci involved in nonsyndromic cleft lip with or without cleft palate.

紀錄類型:	書目-電子資源 : Monograph/item
正題名/作者:	Mapping genetic loci involved in nonsyndromic cleft lip with or without cleft palate./
作者:	Moreno, Lina Maria.
面頁冊數:	337 p.
附註:	Source: Dissertation Abstracts International, Volume: 66-08, Section: B, page: 4065.
Contained By:	Dissertation Abstracts International66-08B.
標題:	Biology, Genetics. -
電子資源:	http://pqdd.sinica.edu.tw/twdaoapp/servlet/advanced?query=3184739
ISBN:	9780542263217

Mapping genetic loci involved in nonsyndromic cleft lip with or without cleft palate.
Moreno, Lina Maria.

Mapping genetic loci involved in nonsyndromic cleft lip with or without cleft palate. - 337 p.

Source: Dissertation Abstracts International, Volume: 66-08, Section: B, page: 4065.

Thesis (Ph.D.)--The University of Iowa, 2005.

Nonsyndromic cleft lip and palate (NSCL/P) is a common birth defect with a complex etiology including a genetic component potentially involving an oligogenic contribution.

ISBN: 9780542263217Subjects--Topical Terms:

1017730
Biology, Genetics.

Mapping genetic loci involved in nonsyndromic cleft lip with or without cleft palate.
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245 1 0 $a Mapping genetic loci involved in nonsyndromic cleft lip with or without cleft palate.
300 $a 337 p.
500 $a Source: Dissertation Abstracts International, Volume: 66-08, Section: B, page: 4065.
500 $a Supervisor: Andrew Carl Lidral.
502 $a Thesis (Ph.D.)--The University of Iowa, 2005.
520 $a Nonsyndromic cleft lip and palate (NSCL/P) is a common birth defect with a complex etiology including a genetic component potentially involving an oligogenic contribution.
520 $a Candidate gene studies, genome wide scans and the identification of syndromic orofacial clefting genes have started to unravel the complexity of NSCL/P. However, even though the presence of a major locus acting on an oligogenic background has been suggested, this locus has yet to be found. The primary objective of this thesis was to identify genetic loci containing variants conferring susceptibility to NSCL/P through linkage and association approaches applied to candidate gene studies, genome scan data and gene-gene interaction methods in NSCL/P families from Medellin-Colombia and Ohio-USA. A secondary objective was to characterize the maternal and paternal origins of the Colombian cleft population to determine if admixture mapping can be applied to map susceptibility loci for CL/P in this population.
520 $a Results obtained from candidate gene analyses support the presence of susceptibility loci in 2p13 (TGFA), 4p16 (MSX1), 11q12--22, 12q24 and 17q11. Genome scan analyses returned very significant results at regions 1p22--p33, 3p14--p23, 3q27, 9q22--33 and 15q11--13.3. The 9q22--33 region provided one of the most significant results ever obtained for NSCL/P. This region was further confirmed by combining HLODs from 7 populations included in a genome scan meta-analysis yielding an HLOD of 6.6 and suggesting the presence of a major gene for NSCL/P in this region. Furthermore, results from the first gene-gene interaction study at a genome wide level suggested interactions between TGFBR1 (9q22--33) and regions 8q24 and 1p36 and also between ROR2 (9q22--33) and the 11q22 region. In addition, significant evidence of heterogeneity was observed implicating another loci in the 2q24--33 region.
520 $a Regarding the characterization of maternal and paternal ancestry of the Colombian population, mtDNA and NRY analyses confirmed that the most likely origin is a multi-founder group of immigrant men from the Iberian Peninsula and Native American women descendants from the Embera tribe that still inhabits the country. These data suggest that this population may be useful in admixture mapping of NSCL/P loci, a trait known to differ in prevalence between the founder populations.
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650 4 $a Health Sciences, Pathology. $3 1017854
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710 2 0 $a The University of Iowa. $3 1017439
773 0 $t Dissertation Abstracts International $g 66-08B.
790 1 0 $a Lidral, Andrew Carl, $e advisor
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