Parent P, Ferec C, Jehanne M, Chabaud J J, Boog G, Saleun J P, Alix D
Département de Pédiatrie et Génétique Médicale, C.H.U. A. Morvan, Brest.
Arch Fr Pediatr. 1988 May;45(5):319-22.
The gene for cystic fibrosis is located on the long arm of chromosome 7 at 7q31. The close linkage between the disease locus and several DNA markers allowed a study of the DNA restriction polymorphism pattern in 30 Breton families. The frequency of the haplotypes indicated by the probes pJ 3.11, met H and met D was established reaching a 66.6% informativity for the families studies. The complete informativity of a family allows for detection of heterozygous brothers and sisters, uncles and aunts and for antenatal screening on trophoblast biopsies in case of further pregnancies.
囊性纤维化基因位于7号染色体长臂的7q31处。该疾病位点与多个DNA标记之间的紧密连锁关系,使得对30个布列塔尼家庭的DNA限制性多态性模式进行了研究。由探针pJ 3.11、met H和met D所指示的单倍型频率得以确定,在所研究的家庭中信息性达到了66.6%。一个家庭的完全信息性能够检测出杂合的兄弟姐妹、叔伯姑婶,并且在后续妊娠时可用于对滋养层活检进行产前筛查。