Complex segregation analysis of facial clefting in Chile

Hernán Palomino; Ricardo M. Cerda-Flores; Rafael Blanco; Hernán M. Palomino; Sara A. Barton; Mariza De Andrade; Ranajit Chakraborty

Complex segregation analysis of facial clefting in Chile

Hernán Palomino, Ricardo M. Cerda-Flores, Rafael Blanco, Hernán M. Palomino, Sara A. Barton, Mariza De Andrade, Ranajit Chakraborty

School of Biomedical Sciences

Research output: Contribution to journal › Article › peer-review

18 Scopus citations

Abstract

Nonsyndromic cleft lip with or without cleft palate (CL/P) has an incidence of 1.5 per 1,000 live births in Chile, with 1.7 per 1,000 in males and 1.3 per 1,000 in females, which is nearly the same as the level found in Asian populations. The high rate of occurrence of CL/P in Chile is probably due to the presence of Amerindian genes in Chilean populations. Using the computer program PAP, a complex segregation analysis of CL/P was conducted for 67 multigeneration pedigrees from Chile, each ascertained from one affected proband. These pedigrees yielded 162 affected individuals and over 898 family members who were included in the analysis. The most parsimonious model of transmission indicated the presence of an autosomal dominant gene with reduced (20-25%) penetrance.

Original language	English
Pages (from-to)	57-64
Number of pages	8
Journal	Journal of Craniofacial Genetics and Developmental Biology
Volume	17
Issue number	2
State	Published - 1997

Keywords

Cleft lip
Cleft palate
Complex segregation
Latin America
Major gene
South American population

Cite this

@article{58b9719b3625417b8f96d2c0e97da036,

title = "Complex segregation analysis of facial clefting in Chile",

abstract = "Nonsyndromic cleft lip with or without cleft palate (CL/P) has an incidence of 1.5 per 1,000 live births in Chile, with 1.7 per 1,000 in males and 1.3 per 1,000 in females, which is nearly the same as the level found in Asian populations. The high rate of occurrence of CL/P in Chile is probably due to the presence of Amerindian genes in Chilean populations. Using the computer program PAP, a complex segregation analysis of CL/P was conducted for 67 multigeneration pedigrees from Chile, each ascertained from one affected proband. These pedigrees yielded 162 affected individuals and over 898 family members who were included in the analysis. The most parsimonious model of transmission indicated the presence of an autosomal dominant gene with reduced (20-25%) penetrance.",

keywords = "Cleft lip, Cleft palate, Complex segregation, Latin America, Major gene, South American population",

author = "Hern{\'a}n Palomino and Cerda-Flores, {Ricardo M.} and Rafael Blanco and Palomino, {Hern{\'a}n M.} and Barton, {Sara A.} and {De Andrade}, Mariza and Ranajit Chakraborty",

year = "1997",

language = "English",

volume = "17",

pages = "57--64",

journal = "Journal of Craniofacial Genetics and Developmental Biology",

issn = "0270-4145",

publisher = "Wiley-Blackwell Publishing Ltd",

number = "2",

}

TY - JOUR

T1 - Complex segregation analysis of facial clefting in Chile

AU - Palomino, Hernán

AU - Cerda-Flores, Ricardo M.

AU - Blanco, Rafael

AU - Palomino, Hernán M.

AU - Barton, Sara A.

AU - De Andrade, Mariza

AU - Chakraborty, Ranajit

PY - 1997

Y1 - 1997

N2 - Nonsyndromic cleft lip with or without cleft palate (CL/P) has an incidence of 1.5 per 1,000 live births in Chile, with 1.7 per 1,000 in males and 1.3 per 1,000 in females, which is nearly the same as the level found in Asian populations. The high rate of occurrence of CL/P in Chile is probably due to the presence of Amerindian genes in Chilean populations. Using the computer program PAP, a complex segregation analysis of CL/P was conducted for 67 multigeneration pedigrees from Chile, each ascertained from one affected proband. These pedigrees yielded 162 affected individuals and over 898 family members who were included in the analysis. The most parsimonious model of transmission indicated the presence of an autosomal dominant gene with reduced (20-25%) penetrance.

AB - Nonsyndromic cleft lip with or without cleft palate (CL/P) has an incidence of 1.5 per 1,000 live births in Chile, with 1.7 per 1,000 in males and 1.3 per 1,000 in females, which is nearly the same as the level found in Asian populations. The high rate of occurrence of CL/P in Chile is probably due to the presence of Amerindian genes in Chilean populations. Using the computer program PAP, a complex segregation analysis of CL/P was conducted for 67 multigeneration pedigrees from Chile, each ascertained from one affected proband. These pedigrees yielded 162 affected individuals and over 898 family members who were included in the analysis. The most parsimonious model of transmission indicated the presence of an autosomal dominant gene with reduced (20-25%) penetrance.

KW - Cleft lip

KW - Cleft palate

KW - Complex segregation

KW - Latin America

KW - Major gene

KW - South American population

UR - http://www.scopus.com/inward/record.url?scp=0030753238&partnerID=8YFLogxK

M3 - Article

C2 - 9224940

AN - SCOPUS:0030753238

SN - 0270-4145

VL - 17

SP - 57

EP - 64

JO - Journal of Craniofacial Genetics and Developmental Biology

JF - Journal of Craniofacial Genetics and Developmental Biology

IS - 2

ER -

Complex segregation analysis of facial clefting in Chile

Abstract

Keywords

Other files and links

Fingerprint

Cite this