[The RFLP of LDR152/PstI in the Chinese and its application to linkage analysis in a myotonic dystrophy family].
Myotonic dystrophy (DM) is inherited as an autosomal dominant trait and is characterized by variable expressivity and late age-of-onset. In the present paper, the DNA from 61 normal individuals and a DM family with 15 members of 4 generations were collected and digested with PstI, then hybridized with the LDR152 (D19S19). The results showed that the alleles for the PstI polymorphism were 19 and 11kb in size (gene frequencies were 0.4344 and 0.5656 respectively, which are obviously different from the previous data reported). In this DM family, the carriers who had lived most of their life without knowing that they had been infected with the disease were detected by the LDR152 and the estimation of DM risk on at-risk-individuals was also calculated.
Tan
J
J
Institute of Genetics, Fudan University, Shanghai.
Qiu
X F
XF
Xue
J L
JL
Liu
Z D
ZD
Li
Y S
YS
Zai
C H
CH
D002888:Chromosomes, Human, Pair 19; D008040:Genetic Linkage; D006801:Humans; D009223:Myotonic Dystrophy / Q000235:genetics*; D012150:Polymorphism, Restriction Fragment Length