INTRON 19A

BsaB I

(RFLP)

INTRON 27A

(AAAT)_n

     EXON 29

TGG→>TGA

mutation

INTRON 38

(CA)_n

SI-140

+ / +

4 / 4

N / M

 144/144

AFFECTED

NF 1

- / +

2 / 4

N / M

 142/144

MOTHER

(AFFECTED)

NF 2

+ / +

3 / 4

N / N

144/148

FATHER