Skip to main content

Table 4 FANCD2 haplotypes

From: Mutation analysis of FANCD2, BRIP1/BACH1, LMO4 and SFN in familial breast cancer

Haplotype

Common or rare

A

- - CTGGTCTCGCCGCC

Common

B

TTGCCAGTCTACCGCC

Common

C

TTGCCAGTCTATCGCC

Rare

D

TTGCCAGTCTACTGCC

Rare

E

TTGCCAGTCTACCTCC

Rare

F

TTGCCAGTCTACCGGC

Rare

G

TTGCCAGTCTACCGCG

Rare

  1. The two common haplotypes were distinguishable by the single nucleotide polymorphisms c. 379-6 delTT, c. 694+17 C>G, c. 784-19 C>T, c. 990-38 C>G, c. 1122 A>G, c. 2270-28 G>T, c. 2976+36 T>C, c. 3850-203 C>T, c. 4185+33 T>C, and c. 4281+97 A>G. The rare haplotypes all occurred on the haplotype B background and were represented by the rare variants, c. 633 C>T, c. 1828+34 C>T, c. 2021+10 G>T, c. 2148 C>G, and c. 3558 C>G. Letters A-G represent the seven different FANCD2 haplotypes.