PMID- 8641689 OWN - NLM STAT- MEDLINE DCOM- 19960712 LR - 20190722 IS - 0340-6717 (Print) IS - 0340-6717 (Linking) VI - 97 IP - 6 DP - 1996 Jun TI - Genetic mapping studies of 40 loci and 23 cosmids in chromosome 11p13-11q13, and exclusion of mu-calpain as the multiple endocrine neoplasia type 1 gene. PG - 732-41 AB - Forty loci (16 polymorphic and 24 non-polymorphic) together with 23 cosmids isolated from a chromosome 11-specific library were used to construct a detailed genetic map of 11p13-11q13. The map was constructed by using a panel of 13 somatic cell hybrids that sub-divided this region into 19 intervals, a meiotic mapping panel of 33 multiple endocrine neoplasia type 1 (MEN1) families (134 affected and 269 unaffected members) and a mitotic mapping panel that was used to identify loss of heterozygosity in 38 MEN1-associated tumours. The results defined the most likely order of the 16 loci as being: 11pter-D11S871-(D11S288, D11S149)-11cen-CNTF-PGA-ROM1-D11S480-PYGM- SEA-D11S913-D11S970-D11S97- D11S146-INT2-D11S971-D11S533-11qter. The meiotic mapping studies indicated that the most likely location of the MEN1 gene was in the interval flanked by PYGM and D11S97, and the results of mitotic mapping suggested a possible location of the MEN1 gene telomeric to SEA. Mapping studies of the gene encoding mu-calpain (CAPN1) located CAPN1 to 11q13 and in the vicinity of the MEN1 locus. However, mutational analysis studies did not detect any germ-line CAPN1 DNA sequence abnormalities in 47 unrelated MEN1 patients and the results therefore exclude CAPN1 as the MEN1 gene. The detailed genetic map that has been constructed of the 11p13-11q13 region should facilitate the construction of a physical map and the identification of candidate genes for disease loci mapped to this region. FAU - Pang, J T AU - Pang JT AD - MRC Molecular Endocrinology Group, Royal Postgraduate Medical School, Hammersmith Hospital, London, UK. FAU - Lloyd, S E AU - Lloyd SE FAU - Wooding, C AU - Wooding C FAU - Farren, B AU - Farren B FAU - Pottinger, B AU - Pottinger B FAU - Harding, B AU - Harding B FAU - Leigh, S E AU - Leigh SE FAU - Pook, M A AU - Pook MA FAU - Benham, F J AU - Benham FJ FAU - Gillett, G T AU - Gillett GT FAU - Taggart, R T AU - Taggart RT FAU - Thakker, R V AU - Thakker RV LA - eng PT - Journal Article PT - Research Support, Non-U.S. Gov't PL - Germany TA - Hum Genet JT - Human genetics JID - 7613873 RN - EC 3.4.22.- (Calpain) SB - IM MH - Animals MH - Base Sequence MH - Calpain/*genetics MH - Chromosome Mapping/*methods MH - Chromosomes, Human, Pair 11/*genetics MH - Cosmids/*genetics MH - Female MH - Gastrinoma/genetics MH - Genetic Linkage MH - Germ-Line Mutation/genetics MH - Humans MH - Hybrid Cells MH - Insulinoma/genetics MH - Male MH - Meiosis MH - Mitosis MH - Molecular Sequence Data MH - Multiple Endocrine Neoplasia Type 1/*genetics MH - Pancreatic Neoplasms/genetics MH - Parathyroid Neoplasms/genetics MH - Pedigree MH - Pituitary Neoplasms/genetics MH - Polymorphism, Genetic MH - Sequence Deletion/genetics EDAT- 1996/06/01 00:00 MHDA- 1996/06/01 00:01 CRDT- 1996/06/01 00:00 PHST- 1996/06/01 00:00 [pubmed] PHST- 1996/06/01 00:01 [medline] PHST- 1996/06/01 00:00 [entrez] AID - 10.1007/BF02346182 [doi] PST - ppublish SO - Hum Genet. 1996 Jun;97(6):732-41. doi: 10.1007/BF02346182.