11q13 allelotype analysis in 27 northern American MEN1 kindreds identifies two distinct founder chromosomes
| Autor: | Sunita K. Agarwal, Stephen J. Marx, Larisa V. Debelenko, Mary Beth Kester, A. Lee Burns, Michael R. Emmert-Buck, Irina A. Lubensky, Shodimu Emmanuel Olufemi, Allen M. Spiegel, Lance A. Liotta, Francis S. Collins, Zhengping Zhuang, Siradanahalli C. Guru, Settara C. Chandrasekharappa, Monica C. Skarulis, Pachiappan Manickam |
|---|---|
| Rok vydání: | 1998 |
| Předmět: |
Genetic Markers
Linkage disequilibrium endocrine system diseases Endocrinology Diabetes and Metabolism Biology Biochemistry Polymerase Chain Reaction Allelotype Analysis Endocrinology Genetics Multiple Endocrine Neoplasia Type 1 Humans MEN1 Allele Molecular Biology Alleles Polymorphism Genetic Chromosomes Human Pair 11 Haplotype Phenotype Founder Effect Pedigree Haplotypes North America Allelic loss |
| Zdroj: | Molecular genetics and metabolism. 63(2) |
| ISSN: | 1096-7192 |
| Popis: | We analyzed constitutional and tumor DNA from 27 MEN1 kindreds not known to be related to each other. Disease allele haplotypes were constructed for each pedigree based on shared alleles from two or more affected members and from determination of allelic loss patterns in their tumors. Analysis of disease allele haplotypes showed unexpected linkage disequilibrium at marker PYGM. Further haplotype analysis indicated this could be explained by the presence of two founder chromosomes, one in four families, the other in three. A shared disease haplotype was not observed among two MEN1 kindreds with the prolactinoma phenotype of MEN1. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|
Full Text from ScienceDirect