Shalev H, Mishori-Dery A, Kapelushnik J, Moser A, Sheffield V C, McClain A, Carmi R
Pediatric Hemato-Oncology Unit, Soroka Medical Center, POB 151, Ben Gurion University of the Negev, Beer-Sheva 84101, Israel.
Prenat Diagn. 2001 Mar;21(3):183-6.
Autosomal recessive malignant osteopetrosis (MOP) is a lethal disease, unless bone marrow is successfully transplanted. Yet a donor may not always be available, and even when there is one transplantation results are far from optimal. The difficulty in obtaining conclusive results by sonographic and X-ray evaluation of the fetus makes prenatal molecular diagnosis highly desirable. Subsequent to the chromosomal localization of the MOP gene in Arab-Bedouin families from the Negev region in Israel, linkage analysis was used for the prenatal diagnosis of this disease in Bedouin families at risk. Twelve cases were diagnosed, three fetuses were found to be affected, and one of the pregnancies was terminated. The other two pregnancies continued to term and the diagnosis of osteopetrosis was confirmed by X-ray immediately after birth. This is the first report on prenatal diagnosis of autosomal recessive osteopetrosis by linkage analysis.
常染色体隐性恶性骨硬化症（MOP）是一种致命疾病，除非成功进行骨髓移植。然而，供体并非总能找到，即便有供体，移植结果也远非理想。通过超声和X射线对胎儿进行评估难以得出确定性结果，因此产前分子诊断非常必要。在以色列内盖夫地区的阿拉伯 - 贝都因家族中确定了MOP基因的染色体定位后，连锁分析被用于对有患病风险的贝都因家族进行该疾病的产前诊断。共诊断出12例，发现3例胎儿患病，其中1例妊娠被终止。另外2例妊娠足月，出生后立即通过X射线确诊为骨硬化症。这是关于通过连锁分析进行常染色体隐性骨硬化症产前诊断的首篇报道。
