MEN1 gene locus haplotype analysis of families with recurrent MEN1 gene mutations
| Haplotypes | ||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 249–253delTCT | 1546–1547insC | 1546–1547delC | 1548–1549insG | 1268G→A | ||||||||||||
| The proband of each family was typed for the microsatellite markers D11S4909, PYGM, D11S4946, and D11S4938, and in the case of families 3 and 4, for the D419D single nucleotide polymorphism in exon 9 of MEN1. For probands sharing the same mutation and at least one microsatellite allele, only the affected allele is shown. In some cases, families with more than one affected family member were genotyped, allowing the identification of the linked allele. The linked allele was determined by looking for allele sharing between affected individuals within each of the families (data not shown). Patients with sporadic MEN1 were not genotyped, including one patient with 1546–1547delC and the two patients with 1378C→T. | ||||||||||||||||
| Family no. | 4 | 5 | 6 | 41 | 41 | 43 | 41 | 41 | 41 | 42 | 38 | 40 | 44 | 45 | 30 | 31 |
| D11S4909 | 5/9 | 1/3 | 8/8 | 9 | 9 | 5/7 | 9 | 9 | 9 | 3/3 | 4/8 | 9/9 | 4/9 | 4/4 | 7/9 | 1/10 |
| PYGM | 8/9 | 11 | 7/8 | 7 | 7 | 3/9 | 7 | 7 | 7 | 1/2 | 8/8 | 8/10 | 1/6 | 3/4 | 14/14 | 4/5 |
| MEN1 D418D | T | C | – | – | – | – | – | – | – | – | – | – | T | C/T | – | – |
| D11S4946 | 4/5 | 4/5 | 2/2 | 4 | 4 | 2/6 | 4 | 4 | 4 | 4/4 | 2/2 | 5 | 4 | 4/5 | 1/3 | 5 |
| D11S4938 | 1/3 | 3/3 | 3/3 | 1 | 1 | 1/3 | 1 | 1 | 1 | 2/3 | 1/1 | 1/5 | 3/3 | 1/3 | 1/3 | 3/3 |