Fukai K, Oh J, Karim M A, Moore K J, Kandil H H, Ito H, Bürger J, Spritz R A
Department of Medical Genetics, University of Wisconsin Medical School, Madison, USA.
Am J Hum Genet. 1996 Sep;59(3):620-4.
Chediak-Higashi syndrome (CHS) is an autosomal recessive disorder characterized by hypopigmentation or oculocutaneous albinism and severe immunologic deficiency with neutropenia and lack of natural killer (NK) cell function. Most patients die in childhood from pyogenic infections or an unusual lymphoma-like condition. A hallmark of the disorder is giant inclusion bodies seen in all granule-containing cells, including granulocytes, lymphocytes, melanocytes, mast cells, and neurons. Similar ultrastructural abnormalities occur in the beige mouse, which thus has been suggested to be homologous to human CHS. High-resolution genetic mapping has indicated that the bg gene region of mouse chromosome 13 is likely homologous to the distal portion of human chromosome 1q. Accordingly, we carried out homozygosity mapping using markers derived from distal human chromosome 1q in four inbred families or probands with CHS. Our results indicate that the human CHS gene maps to an 18.8-cM interval in chromosome segment 1q42-q44 and that human CHS therefore is very likely homologous to mouse bg.
切-东综合征（CHS）是一种常染色体隐性疾病，其特征为色素减退或眼皮肤白化病，以及伴有中性粒细胞减少和自然杀伤（NK）细胞功能缺失的严重免疫缺陷。多数患者在儿童期死于化脓性感染或一种罕见的淋巴瘤样疾病。该疾病的一个标志是在所有含颗粒细胞中可见巨大包涵体，这些细胞包括粒细胞、淋巴细胞、黑素细胞、肥大细胞和神经元。米色小鼠也出现类似的超微结构异常，因此有人提出它与人类CHS具有同源性。高分辨率基因定位表明，小鼠13号染色体的bg基因区域可能与人类1号染色体长臂的远端部分同源。因此，我们利用源自人类1号染色体长臂远端的标记，对四个患有CHS的近亲家族或先证者进行了纯合性定位。我们的结果表明，人类CHS基因定位于1号染色体区段1q42-q44的一个18.8厘摩区间内，因此人类CHS极有可能与小鼠bg同源。
