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PMID: 10756094 Published · ppublish English Journal Article Research Support, Non-U.S. Gov't

An integrated map of human 6q22.3-q24 including a 3-Mb high-resolution BAC/PAC contig encompassing a QTL for fetal hemoglobin.

Genomics ·Vol. 64 ·No. 3 ·2000-03-15 ·Pages 264-76

Game L, Close J, Stephens P, Mitchell J, Best S, Rochette J, Louis-dit-Sully C, Riley J, See CG, Sanseau P, Kearney L, Bethel G, Humphray S, Dunham I, Mungall A, Thein SL

Abstract

Genetic studies have previously assigned a quantitative trait locus (QTL) for hemoglobin F and F cells to a region of approximately 4 Mb between the markers D6S408 and D6S292 on chromosome 6q23. An initial yeast artificial chromosome contig of 13 clones spanning this region was generated. Further linkage analysis of an extended kindred refined the candidate interval to 1-2 cM, and key recombination events now place the QTL within a region of <800 kb. We describe a high-resolution bacterial clone contig spanning 3 Mb covering this critical region. The map consists of 223 bacterial artificial chromosome (BAC) and 100 P1 artificial chromosome (PAC) clones ordered by sequence-tagged site (STS) content and restriction fragment fingerprinting with a minimum tiling path of 22 BACs and 1 PAC. A total of 194 STSs map to this interval of 3 Mb, giving an average marker resolution of approximately one per 15 kb. About half of the markers were novel and were isolated in the present study, including three CA repeats and 13 single nucleotide polymorphisms. Altogether 24 expressed sequence tags, 6 of which are unique genes, have been mapped to the contig.

MeSH Terms
Base Sequence Chromosomes, Artificial, Yeast Chromosomes, Human, Pair 6/genetics Contig Mapping Expressed Sequence Tags Female Fetal Hemoglobin/genetics Genetic Linkage Haplotypes Humans Male Molecular Sequence Data Pedigree Polymerase Chain Reaction Polymorphism, Restriction Fragment Length Quantitative Trait, Heritable
Chemicals
Fetal Hemoglobin
Authors & Affiliations
16 authors, click to expand affiliations / ORCID
Game L
MRC Molecular Haematology Unit, Institute of Molecular Medicine, John Radcliffe Hospital, Headley Way, Headington, OX3 9DS, United Kingdom.
Close J
Stephens P
Mitchell J
Best S
Rochette J
Louis-dit-Sully C
Riley J
See C G
Sanseau P
Kearney L
Bethel G
Humphray S
Dunham I
Mungall A
Thein S L
Article Info
Journal
Genomics
Abbr.
Genomics
ISSN
0888-7543
DOI
10.1006/geno.2000.6133
Published
2000-03-15
Pages
264-76
Language
English
Region
United States
NLM ID
8800135
Subset
IM
Databases
GENBANK
AF191908, AF191909, AF191910, AF191911, AF191912, AF191913, AF191914, AF191915, AF191916, AF191917, AF191918, AF191919, AF191920, AF191921, AF191922, AF191923, AF191924, AF191925, AF191926, AF191927, AF191928, AF191929, AF191930, AF191931, AF191932, AF191933, AF191934, AF191935, AF191936, AF191937
External Links
PubMed source DOI: 10.1006/geno.2000.6133 View journal details
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