scholarly journals DNA-based prenatal diagnosis of a Korean family with tyrosinase-related oculocutaneous albinism (OCA1)

1997 ◽  
Vol 42 (4) ◽  
pp. 499-505 ◽  
Author(s):  
Seung-Taek Lee ◽  
Sang-Kyu Park ◽  
Haeyul Lee ◽  
Jin-Sung Lee ◽  
Yong-Won Park
Keyword(s):  
Prenatal Diagnosis ◽  
Oculocutaneous Albinism ◽  
Korean Family

scholarly journals Prenatal Diagnosis of Oculocutaneous Albinism by Electron Microscopy of Fetal Skin

1983 ◽  
Vol 80 (3) ◽  
pp. 210-212 ◽  
Author(s):  
Robin A.J. Eady ◽  
David B. Gunner ◽  
Alec Garner ◽  
Charles H. Rodeck
Keyword(s):  
Electron Microscopy ◽  
Prenatal Diagnosis ◽  
Oculocutaneous Albinism ◽  
Fetal Skin

Prenatal diagnosis of oculocutaneous albinism by tyrosinase gene analysis

1993 ◽  
Vol 6 (1) ◽  
pp. 37
Author(s):  
Hiroshi Shimizu ◽  
Hironori Niizeki ◽  
Kaoru Suzumori ◽  
Ryoji Aozaki ◽  
Ryuji Kawaguchi ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Oculocutaneous Albinism ◽  
Gene Analysis ◽  
Tyrosinase Gene

DNA-based carrier detection and prenatal diagnosis of tyrosinase-negative oculocutaneous albinism (OCA1A)

1995 ◽  
Vol 15 (4) ◽  
pp. 345-349 ◽  
Author(s):  
Tzipora C. Falik-Borenstein ◽  
Stuart A. Holmes ◽  
Zvi Borochowitz ◽  
Abi Levin ◽  
A. Rosenmann ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Oculocutaneous Albinism ◽  
Carrier Detection

Prenatal diagnosis of oculocutaneous albinism two mutations located at the same allele

2001 ◽  
Vol 21 (3) ◽  
pp. 200-201 ◽  
Author(s):  
Yao-Yuan Hsieh ◽  
Jer-Yuarn Wu ◽  
Chi-Chen Chang ◽  
Fuu-Jen Tsai ◽  
Cheng-Chun Lee ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Oculocutaneous Albinism

Prenatal diagnosis of tyrosinase-negative oculocutaneous albinism

The Lancet ◽  
1992 ◽  
Vol 340 (8821) ◽  
pp. 739-740 ◽  
Author(s):  
Hiroshi Shimizu ◽  
Akira Ishiko ◽  
Arata Kikuchi ◽  
Masashi Akiyama ◽  
Kaoru Suzumori ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Oculocutaneous Albinism

Prenatal Diagnosis of Oculocutaneous Albinism by Analysis of the Fetal Tyrosinase Gene

1994 ◽  
Vol 103 (1) ◽  
pp. 104-106 ◽  
Author(s):  
Hiroshi Shimizu ◽  
Hironori Niizeki ◽  
Kaoru Suzumori ◽  
Ryoji Aozaki ◽  
Ryuji Kawaguchi ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Oculocutaneous Albinism ◽  
Tyrosinase Gene

scholarly journals X-linked Opitz G/BBB Syndrome: Identification of a Novel Mutation and Prenatal Diagnosis in a Korean Family

2006 ◽  
Vol 21 (5) ◽  
pp. 790 ◽  
Author(s):  
Hyun-Jung Cho ◽  
Mee-Yong Shin ◽  
Kang-Mo Ahn ◽  
Sang Il Lee ◽  
Hee Jin Kim ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Novel Mutation ◽  
Korean Family

Prenatal diagnosis of oculocutaneous albinism type II and novel mutations in two Chinese families

2007 ◽  
Vol 27 (6) ◽  
pp. 502-506 ◽  
Author(s):  
Li Hongyi ◽  
Wei Haiyun ◽  
Zheng Hui ◽  
Wenren Qing ◽  
Duan Honglei ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Oculocutaneous Albinism ◽  
Type Ii ◽  
Novel Mutations ◽  
Chinese Families

Prenatal Diagnosis of Oculocutaneous Albinism Type I: Review and Personal Experience

1999 ◽  
Vol 2 (5) ◽  
pp. 404-414 ◽  
Author(s):  
Eliezer Rosenmann ◽  
Ada Rosenmann ◽  
Zvi Ne'eman ◽  
Aby Lewin ◽  
Idit Bejarano-Achache ◽  
...  
Keyword(s):  
At Risk ◽  
Prenatal Diagnosis ◽  
Low Vision ◽  
Molecular Genetic ◽  
Electron Microscopic Examination ◽  
Oculocutaneous Albinism ◽  
Type I ◽  
Electron Microscopic ◽  
Direct Mutation ◽  
Fetal Scalp

Oculocutaneous albinism type I (OCA I) comprises autosomal recessive syndromes of hypopigmentation and low vision, caused by the lack of tyrosinase activity. Affected families seek genetic counseling and prenatal diagnosis as preventive measures. Until recently, prenatal diagnosis of OCA I was achieved by histologic and electron microscopic examination of fetal skin biopsies. Lately, a molecular genetic approach has become possible by the identification of the two mutated copies of the TYR gene, coding the tyrosinase, in which over 60 mutations have been identified. We report here our experience in prenatal diagnosis of OCA I using the two strategies. Thirty-four prenatal tests were performed in fetuses at risk for OCA I. In 31 cases the diagnosis was made in fetal scalp biopsies using the histological approach. The microscopic observations revealed normal melanogenesis in 26 biopsies. Five albino fetuses were diagnosed by the demonstration of arrest of melanogenesis in early stages I and II. In three pregnancies, molecular genetic tests were performed on DNA extracted from amniocytes, using direct mutation analysis (in one), and complemented by linkage analysis (in two). One albino and two normally pigmented fetuses were diagnosed. The prenatal molecular genetic test can be applied to families when at least one mutation is diagnosed in the albino patient. The histological approach is applicable in all families at risk for OCA I.

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